esv2668036
- 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:65,084
- 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: 161 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 159 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2668036 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 13,962,055 | 14,027,138 |
| esv2668036 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 13,983,602 | 14,048,685 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5946308 | deletion | SAMN00006568 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,726 |
| essv6456959 | deletion | SAMN00006547 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5946308 | Remapped | Perfect | NC_000011.10:g.139 62055_14027138delT TTCTTACCA | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 13,962,055 | 14,027,138 |
| essv6456959 | Remapped | Perfect | NC_000011.10:g.139 62055_14027138delT TTCTTACCA | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 13,962,055 | 14,027,138 |
| essv5946308 | Submitted genomic | NC_000011.9:g.1398 3602_14048685delTT TCTTACCA | GRCh37 (hg19) | NC_000011.9 | Chr11 | 13,983,602 | 14,048,685 | ||
| essv6456959 | Submitted genomic | NC_000011.9:g.1398 3602_14048685delTT TCTTACCA | GRCh37 (hg19) | NC_000011.9 | Chr11 | 13,983,602 | 14,048,685 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6456959 | 7 | SAMN00006547 | SNP array | Probe signal intensity | Pass |
| essv5946308 | 7 | SAMN00006568 | SNP array | Probe signal intensity | Pass |