esv2657931
- 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:213,717
- 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: 821 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 821 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2657931 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 165,729,972 | 165,730,006 | 165,943,653 | 165,943,688 |
| esv2657931 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 165,447,760 | 165,447,794 | 165,661,441 | 165,661,476 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6115433 | deletion | SAMN00006362 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv6115433 | Remapped | Perfect | NC_000003.12:g.(16 5729972_165730006) _(165943653_165943 688)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 165,729,972 | 165,730,006 | 165,943,653 | 165,943,688 |
| essv6115433 | Submitted genomic | NC_000003.11:g.(16 5447760_165447794) _(165661441_165661 476)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 165,447,760 | 165,447,794 | 165,661,441 | 165,661,476 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6115433 | 7 | SAMN00006362 | SNP array | Probe signal intensity | Pass |