esv2677693
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Yes
- Clinical Assertions: No
- Region Size:13,987
- 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: 142 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2677693 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 50,904,643 | 50,918,629 |
| esv2677693 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 50,942,074 | 50,956,060 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5398732 | deletion | SAMN00007817 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,168 |
| essv6052902 | deletion | SAMN00001143 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,643 |
| essv6068429 | deletion | SAMN00007870 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 837 |
| essv6447740 | deletion | SAMN00001131 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,611 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5398732 | Remapped | Perfect | NC_000003.12:g.509 04643_50918629delA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 50,904,643 | 50,918,629 |
| essv6052902 | Remapped | Perfect | NC_000003.12:g.509 04643_50918629delA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 50,904,643 | 50,918,629 |
| essv6068429 | Remapped | Perfect | NC_000003.12:g.509 04643_50918629delA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 50,904,643 | 50,918,629 |
| essv6447740 | Remapped | Perfect | NC_000003.12:g.509 04643_50918629delA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 50,904,643 | 50,918,629 |
| essv5398732 | Submitted genomic | NC_000003.11:g.509 42074_50956060delA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 50,942,074 | 50,956,060 | ||
| essv6052902 | Submitted genomic | NC_000003.11:g.509 42074_50956060delA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 50,942,074 | 50,956,060 | ||
| essv6068429 | Submitted genomic | NC_000003.11:g.509 42074_50956060delA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 50,942,074 | 50,956,060 | ||
| essv6447740 | Submitted genomic | NC_000003.11:g.509 42074_50956060delA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 50,942,074 | 50,956,060 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6447740 | 7 | SAMN00001131 | SNP array | Probe signal intensity | Pass |
| essv6052902 | 7 | SAMN00001143 | SNP array | Probe signal intensity | Pass |
| essv5398732 | 7 | SAMN00007817 | SNP array | Probe signal intensity | Pass |
| essv6068429 | 7 | SAMN00007870 | SNP array | Probe signal intensity | Pass |