esv3856559
- 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:28,267
- 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: 585 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 589 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3856559 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 11,595,197 (-500, +0) | 11,623,463 (-0, +500) |
| esv3856559 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 11,595,197 (-500, +0) | 11,623,463 (-0, +500) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv21478599 | deletion | HG02029 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 3,514 |
| essv21478600 | deletion | HG03028 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | Heterozygous | 4,034 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv21478599 | Remapped | Perfect | NC_000009.12:g.(11 594697_11595197)_( 11623463_11623963) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,595,197 (-500, +0) | 11,623,463 (-0, +500) |
| essv21478600 | Remapped | Perfect | NC_000009.12:g.(11 594697_11595197)_( 11623463_11623963) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 11,595,197 (-500, +0) | 11,623,463 (-0, +500) |
| essv21478599 | Submitted genomic | NC_000009.11:g.(11 594697_11595197)_( 11623463_11623963) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,595,197 (-500, +0) | 11,623,463 (-0, +500) | ||
| essv21478600 | Submitted genomic | NC_000009.11:g.(11 594697_11595197)_( 11623463_11623963) del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 11,595,197 (-500, +0) | 11,623,463 (-0, +500) |