esv3856986
- 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:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:71,662
- 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: 433 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 439 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3856986 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 22,849,220 (-500, +0) | 22,920,881 (-0, +500) |
| esv3856986 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 22,849,219 (-500, +0) | 22,920,880 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21511554 | deletion | HG01840 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,582 |
| essv21511555 | deletion | HG02113 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv21511554 | Remapped | Perfect | NC_000009.12:g.(22 848720_22849220)_( 22920881_22921381) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 22,849,220 (-500, +0) | 22,920,881 (-0, +500) |
| essv21511555 | Remapped | Perfect | NC_000009.12:g.(22 848720_22849220)_( 22920881_22921381) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 22,849,220 (-500, +0) | 22,920,881 (-0, +500) |
| essv21511554 | Submitted genomic | NC_000009.11:g.(22 848719_22849219)_( 22920880_22921380) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 22,849,219 (-500, +0) | 22,920,880 (-0, +500) | ||
| essv21511555 | Submitted genomic | NC_000009.11:g.(22 848719_22849219)_( 22920880_22921380) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 22,849,219 (-500, +0) | 22,920,880 (-0, +500) |