esv2661394
- 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:14,195
- 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: 207 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 207 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2661394 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 10,748,637 | 10,762,831 |
| esv2661394 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 10,788,264 | 10,802,458 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6021106 | deletion | SAMN00006343 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,667 |
| essv6545222 | deletion | SAMN00001265 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 933 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6021106 | Remapped | Perfect | NC_000007.14:g.107 48637_10762831delT | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 10,748,637 | 10,762,831 |
| essv6545222 | Remapped | Perfect | NC_000007.14:g.107 48637_10762831delT | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 10,748,637 | 10,762,831 |
| essv6021106 | Submitted genomic | NC_000007.13:g.107 88264_10802458delT | GRCh37 (hg19) | NC_000007.13 | Chr7 | 10,788,264 | 10,802,458 | ||
| essv6545222 | Submitted genomic | NC_000007.13:g.107 88264_10802458delT | GRCh37 (hg19) | NC_000007.13 | Chr7 | 10,788,264 | 10,802,458 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6545222 | 7 | SAMN00001265 | SNP array | Probe signal intensity | Pass |
| essv6021106 | 7 | SAMN00006343 | SNP array | Probe signal intensity | Pass |