esv2675159
- 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:132,670
- 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: 654 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 654 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2675159 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 76,591,334 | 76,591,368 | 76,723,968 | 76,724,003 |
| esv2675159 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 76,818,460 | 76,818,494 | 76,951,094 | 76,951,129 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5826287 | deletion | SAMN00006553 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,677 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5826287 | Remapped | Perfect | NC_000002.12:g.(76 591334_76591368)_( 76723968_76724003) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 76,591,334 | 76,591,368 | 76,723,968 | 76,724,003 |
| essv5826287 | Submitted genomic | NC_000002.11:g.(76 818460_76818494)_( 76951094_76951129) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 76,818,460 | 76,818,494 | 76,951,094 | 76,951,129 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5826287 | 9 | SAMN00006553 | Oligo aCGH | Probe signal intensity | Pass |
| essv5826287 | 7 | SAMN00006553 | SNP array | Probe signal intensity | Pass |