esv3857166
- Organism: Homo sapiens
- Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,298
- 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: 428 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 434 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3857166 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 28,373,198 (-10, +10) | 28,412,495 (-10, +10) |
| esv3857166 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 28,373,196 (-10, +10) | 28,412,493 (-10, +10) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21521834 | deletion | HG03863 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,227 |
| essv21521835 | deletion | HG03882 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,429 |
| essv21521836 | deletion | HG04206 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,791 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv21521834 | Remapped | Perfect | NC_000009.12:g.(28 373188_28373208)_( 28412485_28412505) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,373,198 (-10, +10) | 28,412,495 (-10, +10) |
| essv21521835 | Remapped | Perfect | NC_000009.12:g.(28 373188_28373208)_( 28412485_28412505) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,373,198 (-10, +10) | 28,412,495 (-10, +10) |
| essv21521836 | Remapped | Perfect | NC_000009.12:g.(28 373188_28373208)_( 28412485_28412505) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,373,198 (-10, +10) | 28,412,495 (-10, +10) |
| essv21521834 | Submitted genomic | NC_000009.11:g.(28 373186_28373206)_( 28412483_28412503) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,373,196 (-10, +10) | 28,412,493 (-10, +10) | ||
| essv21521835 | Submitted genomic | NC_000009.11:g.(28 373186_28373206)_( 28412483_28412503) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,373,196 (-10, +10) | 28,412,493 (-10, +10) | ||
| essv21521836 | Submitted genomic | NC_000009.11:g.(28 373186_28373206)_( 28412483_28412503) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,373,196 (-10, +10) | 28,412,493 (-10, +10) |