esv3851057
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):1000 Genomes Consortium Phase 3 Integrated SV
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: 158 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3851057 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 117,585,340 | 117,585,340 |
| esv3851057 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 117,225,394 | 117,225,394 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv20846147 | line1 insertion | HG00121 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,326 |
| essv20846148 | line1 insertion | HG01686 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,588 |
| essv20846149 | line1 insertion | HG01766 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,435 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv20846147 | Remapped | Perfect | NC_000007.14:g.117 585340_117585341in s4476 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 117,585,340 | 117,585,340 |
| essv20846148 | Remapped | Perfect | NC_000007.14:g.117 585340_117585341in s4476 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 117,585,340 | 117,585,340 |
| essv20846149 | Remapped | Perfect | NC_000007.14:g.117 585340_117585341in s4476 | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 117,585,340 | 117,585,340 |
| essv20846147 | Submitted genomic | NC_000007.13:g.117 225394_117225395in s4476 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 117,225,394 | 117,225,394 | ||
| essv20846148 | Submitted genomic | NC_000007.13:g.117 225394_117225395in s4476 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 117,225,394 | 117,225,394 | ||
| essv20846149 | Submitted genomic | NC_000007.13:g.117 225394_117225395in s4476 | GRCh37 (hg19) | NC_000007.13 | Chr7 | 117,225,394 | 117,225,394 |