esv2730625
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:27,944
- 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: 194 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2730625 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 115,842,079 | 115,870,022 |
| esv2730625 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 115,177,776 | 115,205,719 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6938817 | deletion | SSM001 | Sequencing | Paired-end mapping | 2,205 |
| essv6742989 | deletion | SSM053 | Sequencing | Paired-end mapping | 2,524 |
| essv6793321 | deletion | SSM009 | Sequencing | Paired-end mapping | 2,898 |
| essv6947631 | deletion | SSM024 | Sequencing | Paired-end mapping | 3,639 |
| essv6745795 | deletion | SSM055 | Sequencing | Paired-end mapping | 2,550 |
| essv6798656 | deletion | SSM072 | Sequencing | Paired-end mapping | 3,775 |
| essv6814164 | deletion | SSM077 | Sequencing | Paired-end mapping | 3,068 |
| essv6844753 | deletion | SSM085 | Sequencing | Paired-end mapping | 2,776 |
| essv6730699 | deletion | SSM047 | Sequencing | Paired-end mapping | 3,502 |
| essv6963408 | deletion | SSM027 | Sequencing | Paired-end mapping | 5,772 |
| essv6697796 | deletion | SSM038 | Sequencing | Paired-end mapping | 2,327 |
| essv6848836 | deletion | SSM086 | Sequencing | Paired-end mapping | 5,602 |
| essv6736824 | deletion | SSM050 | Sequencing | Paired-end mapping | 2,538 |
| essv6930275 | deletion | SSM020 | Sequencing | Paired-end mapping | 3,809 |
| essv6938815 | deletion | SSM022 | Sequencing | Paired-end mapping | 3,696 |
| essv6778003 | deletion | SSM067 | Sequencing | Paired-end mapping | 3,533 |
| essv6702443 | deletion | SSM006 | Sequencing | Paired-end mapping | 2,080 |
| essv6693972 | deletion | SSM037 | Sequencing | Paired-end mapping | 3,839 |
| essv6860593 | deletion | SSM088 | Sequencing | Paired-end mapping | 4,275 |
| essv6830006 | deletion | SSM081 | Sequencing | Paired-end mapping | 3,222 |
| essv6764870 | deletion | SSM063 | Sequencing | Paired-end mapping | 2,124 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6938817 | Remapped | Perfect | NC_000005.10:g.(11 5842079_?)_(?_1158 70016)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,079 | 115,870,016 |
| essv6742989 | Remapped | Perfect | NC_000005.10:g.(11 5842082_?)_(?_1158 69969)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,082 | 115,869,969 |
| essv6793321 | Remapped | Perfect | NC_000005.10:g.(11 5842085_?)_(?_1158 69548)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,085 | 115,869,548 |
| essv6947631 | Remapped | Perfect | NC_000005.10:g.(11 5842093_?)_(?_1158 70013)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,093 | 115,870,013 |
| essv6745795 | Remapped | Perfect | NC_000005.10:g.(11 5842095_?)_(?_1158 70018)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,095 | 115,870,018 |
| essv6798656 | Remapped | Perfect | NC_000005.10:g.(11 5842096_?)_(?_1158 69985)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,096 | 115,869,985 |
| essv6814164 | Remapped | Perfect | NC_000005.10:g.(11 5842096_?)_(?_1158 70015)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,096 | 115,870,015 |
| essv6844753 | Remapped | Perfect | NC_000005.10:g.(11 5842096_?)_(?_1158 70022)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,096 | 115,870,022 |
| essv6730699 | Remapped | Perfect | NC_000005.10:g.(11 5842096_?)_(?_1158 70026)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,096 | 115,870,026 |
| essv6963408 | Remapped | Perfect | NC_000005.10:g.(11 5842098_?)_(?_1158 69976)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,098 | 115,869,976 |
| essv6697796 | Remapped | Perfect | NC_000005.10:g.(11 5842098_?)_(?_1158 70016)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,098 | 115,870,016 |
| essv6848836 | Remapped | Perfect | NC_000005.10:g.(11 5842098_?)_(?_1158 70016)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,098 | 115,870,016 |
| essv6736824 | Remapped | Perfect | NC_000005.10:g.(11 5842098_?)_(?_1158 70027)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,098 | 115,870,027 |
| essv6930275 | Remapped | Perfect | NC_000005.10:g.(11 5842099_?)_(?_1158 70017)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,099 | 115,870,017 |
| essv6938815 | Remapped | Perfect | NC_000005.10:g.(11 5842099_?)_(?_1158 70020)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,099 | 115,870,020 |
| essv6778003 | Remapped | Perfect | NC_000005.10:g.(11 5842100_?)_(?_1158 70022)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,100 | 115,870,022 |
| essv6702443 | Remapped | Perfect | NC_000005.10:g.(11 5842101_?)_(?_1158 69741)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,101 | 115,869,741 |
| essv6693972 | Remapped | Perfect | NC_000005.10:g.(11 5842101_?)_(?_1158 70016)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,101 | 115,870,016 |
| essv6860593 | Remapped | Perfect | NC_000005.10:g.(11 5842104_?)_(?_1158 70015)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,104 | 115,870,015 |
| essv6830006 | Remapped | Perfect | NC_000005.10:g.(11 5842111_?)_(?_1158 70024)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,111 | 115,870,024 |
| essv6764870 | Remapped | Perfect | NC_000005.10:g.(11 5842326_?)_(?_1158 70018)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 115,842,326 | 115,870,018 |
| essv6938817 | Submitted genomic | NC_000005.9:g.(115 177776_?)_(?_11520 5713)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,776 | 115,205,713 | ||
| essv6742989 | Submitted genomic | NC_000005.9:g.(115 177779_?)_(?_11520 5666)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,779 | 115,205,666 | ||
| essv6793321 | Submitted genomic | NC_000005.9:g.(115 177782_?)_(?_11520 5245)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,782 | 115,205,245 | ||
| essv6947631 | Submitted genomic | NC_000005.9:g.(115 177790_?)_(?_11520 5710)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,790 | 115,205,710 | ||
| essv6745795 | Submitted genomic | NC_000005.9:g.(115 177792_?)_(?_11520 5715)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,792 | 115,205,715 | ||
| essv6798656 | Submitted genomic | NC_000005.9:g.(115 177793_?)_(?_11520 5682)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,793 | 115,205,682 | ||
| essv6814164 | Submitted genomic | NC_000005.9:g.(115 177793_?)_(?_11520 5712)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,793 | 115,205,712 | ||
| essv6844753 | Submitted genomic | NC_000005.9:g.(115 177793_?)_(?_11520 5719)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,793 | 115,205,719 | ||
| essv6730699 | Submitted genomic | NC_000005.9:g.(115 177793_?)_(?_11520 5723)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,793 | 115,205,723 | ||
| essv6963408 | Submitted genomic | NC_000005.9:g.(115 177795_?)_(?_11520 5673)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,795 | 115,205,673 | ||
| essv6697796 | Submitted genomic | NC_000005.9:g.(115 177795_?)_(?_11520 5713)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,795 | 115,205,713 | ||
| essv6848836 | Submitted genomic | NC_000005.9:g.(115 177795_?)_(?_11520 5713)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,795 | 115,205,713 | ||
| essv6736824 | Submitted genomic | NC_000005.9:g.(115 177795_?)_(?_11520 5724)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,795 | 115,205,724 | ||
| essv6930275 | Submitted genomic | NC_000005.9:g.(115 177796_?)_(?_11520 5714)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,796 | 115,205,714 | ||
| essv6938815 | Submitted genomic | NC_000005.9:g.(115 177796_?)_(?_11520 5717)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,796 | 115,205,717 | ||
| essv6778003 | Submitted genomic | NC_000005.9:g.(115 177797_?)_(?_11520 5719)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,797 | 115,205,719 | ||
| essv6702443 | Submitted genomic | NC_000005.9:g.(115 177798_?)_(?_11520 5438)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,798 | 115,205,438 | ||
| essv6693972 | Submitted genomic | NC_000005.9:g.(115 177798_?)_(?_11520 5713)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,798 | 115,205,713 | ||
| essv6860593 | Submitted genomic | NC_000005.9:g.(115 177801_?)_(?_11520 5712)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,801 | 115,205,712 | ||
| essv6830006 | Submitted genomic | NC_000005.9:g.(115 177808_?)_(?_11520 5721)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,177,808 | 115,205,721 | ||
| essv6764870 | Submitted genomic | NC_000005.9:g.(115 178023_?)_(?_11520 5715)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 115,178,023 | 115,205,715 |