esv2669522
- 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:12,286
- 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: 702 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 702 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2669522 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 162,194,353 | 162,206,638 |
| esv2669522 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 162,615,385 | 162,627,670 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5641072 | deletion | SAMN00007737 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,715 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5641072 | Remapped | Perfect | NC_000006.12:g.162 194353_162206638de lA | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 162,194,353 | 162,206,638 |
| essv5641072 | Submitted genomic | NC_000006.11:g.162 615385_162627670de lA | GRCh37 (hg19) | NC_000006.11 | Chr6 | 162,615,385 | 162,627,670 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5641072 | 7 | SAMN00007737 | SNP array | Probe signal intensity | Pass |