esv2675924
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:19,490
- Description:High quality site
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 244 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2675924 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 44,833,658 | 44,833,695 | 44,853,097 | 44,853,147 |
| esv2675924 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 45,407,794 | 45,407,831 | 45,427,233 | 45,427,283 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5654635 | deletion | SAMN00000927 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,263 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5654635 | Remapped | Perfect | NC_000013.11:g.(44 833658_44833695)_( 44853097_44853147) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 44,833,658 | 44,833,695 | 44,853,097 | 44,853,147 |
| essv5654635 | Submitted genomic | NC_000013.10:g.(45 407794_45407831)_( 45427233_45427283) del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 45,407,794 | 45,407,831 | 45,427,233 | 45,427,283 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5654635 | 7 | SAMN00000927 | SNP array | Probe signal intensity | Pass |