esv2677187
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Yes
- Clinical Assertions: No
- Region Size:15,607
- 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: 191 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 191 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2677187 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 61,945,681 | 61,961,287 |
| esv2677187 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 61,979,585 | 61,995,191 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5840994 | deletion | SAMN00006561 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,714 |
| essv6268657 | deletion | SAMN00000924 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,049 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5840994 | Remapped | Perfect | NC_000016.10:g.619 45681_61961287delA TATCACT | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 61,945,681 | 61,961,287 |
| essv6268657 | Remapped | Perfect | NC_000016.10:g.619 45681_61961287delA TATCACT | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 61,945,681 | 61,961,287 |
| essv5840994 | Submitted genomic | NC_000016.9:g.6197 9585_61995191delAT ATCACT | GRCh37 (hg19) | NC_000016.9 | Chr16 | 61,979,585 | 61,995,191 | ||
| essv6268657 | Submitted genomic | NC_000016.9:g.6197 9585_61995191delAT ATCACT | GRCh37 (hg19) | NC_000016.9 | Chr16 | 61,979,585 | 61,995,191 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6268657 | 7 | SAMN00000924 | SNP array | Probe signal intensity | Pass |
| essv5840994 | 7 | SAMN00006561 | SNP array | Probe signal intensity | Pass |