esv2662742
- 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:21,504
- 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: 188 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2662742 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 43,320,676 | 43,342,179 |
| esv2662742 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 43,547,815 | 43,569,318 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6319212 | deletion | SAMN00014348 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,196 |
| essv6391505 | deletion | SAMN00009154 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,617 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6319212 | Remapped | Perfect | NC_000002.12:g.433 20676_43342179delA | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 43,320,676 | 43,342,179 |
| essv6391505 | Remapped | Perfect | NC_000002.12:g.433 20676_43342179delA | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 43,320,676 | 43,342,179 |
| essv6319212 | Submitted genomic | NC_000002.11:g.435 47815_43569318delA | GRCh37 (hg19) | NC_000002.11 | Chr2 | 43,547,815 | 43,569,318 | ||
| essv6391505 | Submitted genomic | NC_000002.11:g.435 47815_43569318delA | GRCh37 (hg19) | NC_000002.11 | Chr2 | 43,547,815 | 43,569,318 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6391505 | 7 | SAMN00009154 | SNP array | Probe signal intensity | Pass |
| essv6319212 | 7 | SAMN00014348 | SNP array | Probe signal intensity | Pass |