esv2665971
- 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:19,197
- 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: 302 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 302 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2665971 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,757,370 | 189,757,407 | 189,776,516 | 189,776,566 |
| esv2665971 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 189,726,500 | 189,726,537 | 189,745,646 | 189,745,696 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5708186 | deletion | SAMN00001162 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,432 |
| essv6060671 | deletion | SAMN00001127 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,924 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5708186 | Remapped | Perfect | NC_000001.11:g.(18 9757370_189757407) _(189776516_189776 566)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,757,370 | 189,757,407 | 189,776,516 | 189,776,566 |
| essv6060671 | Remapped | Perfect | NC_000001.11:g.(18 9757370_189757407) _(189776516_189776 566)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,757,370 | 189,757,407 | 189,776,516 | 189,776,566 |
| essv5708186 | Submitted genomic | NC_000001.10:g.(18 9726500_189726537) _(189745646_189745 696)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,726,500 | 189,726,537 | 189,745,646 | 189,745,696 | ||
| essv6060671 | Submitted genomic | NC_000001.10:g.(18 9726500_189726537) _(189745646_189745 696)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,726,500 | 189,726,537 | 189,745,646 | 189,745,696 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6060671 | 7 | SAMN00001127 | SNP array | Probe signal intensity | Pass |
| essv5708186 | 7 | SAMN00001162 | SNP array | Probe signal intensity | Pass |