esv3622164
- Organism: Homo sapiens
- Study:estd214 (1000 Genomes Consortium Phase 3)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:26,201
- Publication(s):1000 Genomes Project Consortium et al. 2015
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: 452 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 452 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3622164 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 3,099,237 | 3,125,437 |
| esv3622164 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 3,141,429 | 3,167,629 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv13678915 | copy number loss | SAMN00006370 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,238 |
| essv13678916 | copy number loss | SAMN00006433 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,389 |
| essv13678917 | copy number loss | SAMN00006511 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,127 |
| essv13678918 | copy number loss | SAMN00006516 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,414 |
| essv13678919 | copy number loss | SAMN00006526 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,229 |
| essv13678920 | copy number loss | SAMN00006528 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,458 |
| essv13678921 | copy number loss | SAMN00006529 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,283 |
| essv13678922 | copy number loss | SAMN00006531 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,378 |
| essv13678923 | copy number loss | SAMN00000386 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,456 |
| essv13678924 | copy number gain | SAMN00006474 | Sequencing | Read depth and paired-end mapping | Heterozygous | 2,735 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv13678915 | Remapped | Perfect | NC_000010.11:g.309 9237_3125437del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 3,099,237 | 3,125,437 |
| essv13678916 | Remapped | Perfect | NC_000010.11:g.309 9237_3125437del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 3,099,237 | 3,125,437 |
| essv13678917 | Remapped | Perfect | NC_000010.11:g.309 9237_3125437del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 3,099,237 | 3,125,437 |
| essv13678918 | Remapped | Perfect | NC_000010.11:g.309 9237_3125437del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 3,099,237 | 3,125,437 |
| essv13678919 | Remapped | Perfect | NC_000010.11:g.309 9237_3125437del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 3,099,237 | 3,125,437 |
| essv13678920 | Remapped | Perfect | NC_000010.11:g.309 9237_3125437del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 3,099,237 | 3,125,437 |
| essv13678921 | Remapped | Perfect | NC_000010.11:g.309 9237_3125437del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 3,099,237 | 3,125,437 |
| essv13678922 | Remapped | Perfect | NC_000010.11:g.309 9237_3125437del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 3,099,237 | 3,125,437 |
| essv13678923 | Remapped | Perfect | NC_000010.11:g.309 9237_3125437del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 3,099,237 | 3,125,437 |
| essv13678924 | Remapped | Perfect | NC_000010.11:g.309 9237_3125437dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 3,099,237 | 3,125,437 |
| essv13678915 | Submitted genomic | NC_000010.10:g.314 1429_3167629del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 3,141,429 | 3,167,629 | ||
| essv13678916 | Submitted genomic | NC_000010.10:g.314 1429_3167629del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 3,141,429 | 3,167,629 | ||
| essv13678917 | Submitted genomic | NC_000010.10:g.314 1429_3167629del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 3,141,429 | 3,167,629 | ||
| essv13678918 | Submitted genomic | NC_000010.10:g.314 1429_3167629del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 3,141,429 | 3,167,629 | ||
| essv13678919 | Submitted genomic | NC_000010.10:g.314 1429_3167629del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 3,141,429 | 3,167,629 | ||
| essv13678920 | Submitted genomic | NC_000010.10:g.314 1429_3167629del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 3,141,429 | 3,167,629 | ||
| essv13678921 | Submitted genomic | NC_000010.10:g.314 1429_3167629del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 3,141,429 | 3,167,629 | ||
| essv13678922 | Submitted genomic | NC_000010.10:g.314 1429_3167629del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 3,141,429 | 3,167,629 | ||
| essv13678923 | Submitted genomic | NC_000010.10:g.314 1429_3167629del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 3,141,429 | 3,167,629 | ||
| essv13678924 | Submitted genomic | NC_000010.10:g.314 1429_3167629dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 3,141,429 | 3,167,629 |