esv2720566
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,749
- Publication(s):Wong et al. 2013
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 245 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 245 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2720566 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 114,761,244 | 114,778,992 |
| esv2720566 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 115,518,821 | 115,536,569 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6859605 | deletion | SSM088 | Sequencing | Paired-end mapping | 4,275 |
| essv6697987 | deletion | SSM006 | Sequencing | Paired-end mapping | 2,080 |
| essv6751842 | deletion | SSM008 | Sequencing | Paired-end mapping | 3,261 |
| essv6667082 | deletion | SSM030 | Sequencing | Paired-end mapping | 1,792 |
| essv6759328 | deletion | SSM061 | Sequencing | Paired-end mapping | 2,539 |
| essv6787622 | deletion | SSM009 | Sequencing | Paired-end mapping | 2,898 |
| essv6748058 | deletion | SSM056 | Sequencing | Paired-end mapping | 2,545 |
| essv6736255 | deletion | SSM050 | Sequencing | Paired-end mapping | 2,538 |
| essv6933694 | deletion | SSM021 | Sequencing | Paired-end mapping | 3,936 |
| essv6840334 | deletion | SSM084 | Sequencing | Paired-end mapping | 3,545 |
| essv6879898 | deletion | SSM012 | Sequencing | Paired-end mapping | 3,093 |
| essv6714603 | deletion | SSM043 | Sequencing | Paired-end mapping | 3,539 |
| essv6766804 | deletion | SSM064 | Sequencing | Paired-end mapping | 2,654 |
| essv6917804 | deletion | SSM017 | Sequencing | Paired-end mapping | 3,873 |
| essv6801890 | deletion | SSM073 | Sequencing | Paired-end mapping | 2,506 |
| essv6789551 | deletion | SSM070 | Sequencing | Paired-end mapping | 3,746 |
| essv6955365 | deletion | SSM026 | Sequencing | Paired-end mapping | 6,124 |
| essv6922118 | deletion | SSM018 | Sequencing | Paired-end mapping | 3,574 |
| essv6847589 | deletion | SSM086 | Sequencing | Paired-end mapping | 5,602 |
| essv6773782 | deletion | SSM066 | Sequencing | Paired-end mapping | 3,133 |
| essv6962123 | deletion | SSM027 | Sequencing | Paired-end mapping | 5,772 |
| essv6973003 | deletion | SSM029 | Sequencing | Paired-end mapping | 6,569 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6859605 | Remapped | Perfect | NC_000002.12:g.(11 4761244_?)_(?_1147 78872)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,761,244 | 114,778,872 |
| essv6697987 | Remapped | Perfect | NC_000002.12:g.(11 4761332_?)_(?_1147 78992)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,761,332 | 114,778,992 |
| essv6751842 | Remapped | Perfect | NC_000002.12:g.(11 4772913_?)_(?_1147 73782)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,772,913 | 114,773,782 |
| essv6667082 | Remapped | Perfect | NC_000002.12:g.(11 4773058_?)_(?_1147 73824)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,058 | 114,773,824 |
| essv6759328 | Remapped | Perfect | NC_000002.12:g.(11 4773152_?)_(?_1147 73668)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,152 | 114,773,668 |
| essv6787622 | Remapped | Perfect | NC_000002.12:g.(11 4773160_?)_(?_1147 73614)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,160 | 114,773,614 |
| essv6748058 | Remapped | Perfect | NC_000002.12:g.(11 4773172_?)_(?_1147 73794)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,172 | 114,773,794 |
| essv6736255 | Remapped | Perfect | NC_000002.12:g.(11 4773183_?)_(?_1147 73930)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,183 | 114,773,930 |
| essv6933694 | Remapped | Perfect | NC_000002.12:g.(11 4773185_?)_(?_1147 73670)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,185 | 114,773,670 |
| essv6840334 | Remapped | Perfect | NC_000002.12:g.(11 4773191_?)_(?_1147 73718)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,191 | 114,773,718 |
| essv6879898 | Remapped | Perfect | NC_000002.12:g.(11 4773202_?)_(?_1147 73634)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,202 | 114,773,634 |
| essv6714603 | Remapped | Perfect | NC_000002.12:g.(11 4773205_?)_(?_1147 73593)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,205 | 114,773,593 |
| essv6766804 | Remapped | Perfect | NC_000002.12:g.(11 4773210_?)_(?_1147 73613)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,210 | 114,773,613 |
| essv6917804 | Remapped | Perfect | NC_000002.12:g.(11 4773211_?)_(?_1147 73612)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,211 | 114,773,612 |
| essv6801890 | Remapped | Perfect | NC_000002.12:g.(11 4773213_?)_(?_1147 73586)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,213 | 114,773,586 |
| essv6789551 | Remapped | Perfect | NC_000002.12:g.(11 4773215_?)_(?_1147 73597)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,215 | 114,773,597 |
| essv6955365 | Remapped | Perfect | NC_000002.12:g.(11 4773223_?)_(?_1147 73599)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,223 | 114,773,599 |
| essv6922118 | Remapped | Perfect | NC_000002.12:g.(11 4773224_?)_(?_1147 73595)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,224 | 114,773,595 |
| essv6847589 | Remapped | Perfect | NC_000002.12:g.(11 4773241_?)_(?_1147 73648)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,241 | 114,773,648 |
| essv6773782 | Remapped | Perfect | NC_000002.12:g.(11 4773268_?)_(?_1147 73636)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,268 | 114,773,636 |
| essv6962123 | Remapped | Perfect | NC_000002.12:g.(11 4773323_?)_(?_1147 73445)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,323 | 114,773,445 |
| essv6973003 | Remapped | Perfect | NC_000002.12:g.(11 4773376_?)_(?_1147 73477)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 114,773,376 | 114,773,477 |
| essv6859605 | Submitted genomic | NC_000002.11:g.(11 5518821_?)_(?_1155 36449)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,518,821 | 115,536,449 | ||
| essv6697987 | Submitted genomic | NC_000002.11:g.(11 5518909_?)_(?_1155 36569)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,518,909 | 115,536,569 | ||
| essv6751842 | Submitted genomic | NC_000002.11:g.(11 5530490_?)_(?_1155 31359)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,490 | 115,531,359 | ||
| essv6667082 | Submitted genomic | NC_000002.11:g.(11 5530635_?)_(?_1155 31401)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,635 | 115,531,401 | ||
| essv6759328 | Submitted genomic | NC_000002.11:g.(11 5530729_?)_(?_1155 31245)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,729 | 115,531,245 | ||
| essv6787622 | Submitted genomic | NC_000002.11:g.(11 5530737_?)_(?_1155 31191)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,737 | 115,531,191 | ||
| essv6748058 | Submitted genomic | NC_000002.11:g.(11 5530749_?)_(?_1155 31371)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,749 | 115,531,371 | ||
| essv6736255 | Submitted genomic | NC_000002.11:g.(11 5530760_?)_(?_1155 31507)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,760 | 115,531,507 | ||
| essv6933694 | Submitted genomic | NC_000002.11:g.(11 5530762_?)_(?_1155 31247)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,762 | 115,531,247 | ||
| essv6840334 | Submitted genomic | NC_000002.11:g.(11 5530768_?)_(?_1155 31295)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,768 | 115,531,295 | ||
| essv6879898 | Submitted genomic | NC_000002.11:g.(11 5530779_?)_(?_1155 31211)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,779 | 115,531,211 | ||
| essv6714603 | Submitted genomic | NC_000002.11:g.(11 5530782_?)_(?_1155 31170)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,782 | 115,531,170 | ||
| essv6766804 | Submitted genomic | NC_000002.11:g.(11 5530787_?)_(?_1155 31190)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,787 | 115,531,190 | ||
| essv6917804 | Submitted genomic | NC_000002.11:g.(11 5530788_?)_(?_1155 31189)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,788 | 115,531,189 | ||
| essv6801890 | Submitted genomic | NC_000002.11:g.(11 5530790_?)_(?_1155 31163)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,790 | 115,531,163 | ||
| essv6789551 | Submitted genomic | NC_000002.11:g.(11 5530792_?)_(?_1155 31174)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,792 | 115,531,174 | ||
| essv6955365 | Submitted genomic | NC_000002.11:g.(11 5530800_?)_(?_1155 31176)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,800 | 115,531,176 | ||
| essv6922118 | Submitted genomic | NC_000002.11:g.(11 5530801_?)_(?_1155 31172)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,801 | 115,531,172 | ||
| essv6847589 | Submitted genomic | NC_000002.11:g.(11 5530818_?)_(?_1155 31225)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,818 | 115,531,225 | ||
| essv6773782 | Submitted genomic | NC_000002.11:g.(11 5530845_?)_(?_1155 31213)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,845 | 115,531,213 | ||
| essv6962123 | Submitted genomic | NC_000002.11:g.(11 5530900_?)_(?_1155 31022)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,900 | 115,531,022 | ||
| essv6973003 | Submitted genomic | NC_000002.11:g.(11 5530953_?)_(?_1155 31054)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 115,530,953 | 115,531,054 |