esv2676612
- 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:70,887
- 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: 376 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 376 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2676612 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 15,216,163 | 15,216,200 | 15,286,999 | 15,287,049 |
| esv2676612 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 15,255,788 | 15,255,825 | 15,326,624 | 15,326,674 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5855556 | deletion | SAMN00001233 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,013 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5855556 | Remapped | Perfect | NC_000007.14:g.(15 216163_15216200)_( 15286999_15287049) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 15,216,163 | 15,216,200 | 15,286,999 | 15,287,049 |
| essv5855556 | Submitted genomic | NC_000007.13:g.(15 255788_15255825)_( 15326624_15326674) del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 15,255,788 | 15,255,825 | 15,326,624 | 15,326,674 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5855556 | 7 | SAMN00001233 | SNP array | Probe signal intensity | Pass |