esv2675911
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:7
- Validation:Yes
- Clinical Assertions: No
- Region Size:18,028
- 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: 545 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 547 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2675911 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 5,385,346 | 5,403,373 |
| esv2675911 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 5,385,346 | 5,403,373 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5601674 | deletion | SAMN00001134 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,508 |
| essv5677332 | deletion | SAMN00007797 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,159 |
| essv5694171 | deletion | SAMN00001167 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,298 |
| essv6097987 | deletion | SAMN00001174 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,500 |
| essv6367298 | deletion | SAMN00000568 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,629 |
| essv6521205 | deletion | SAMN00007728 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,156 |
| essv6532467 | deletion | SAMN00001147 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5601674 | Remapped | Perfect | NC_000009.12:g.538 5346_5403373delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 5,385,346 | 5,403,373 |
| essv5677332 | Remapped | Perfect | NC_000009.12:g.538 5346_5403373delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 5,385,346 | 5,403,373 |
| essv5694171 | Remapped | Perfect | NC_000009.12:g.538 5346_5403373delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 5,385,346 | 5,403,373 |
| essv6097987 | Remapped | Perfect | NC_000009.12:g.538 5346_5403373delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 5,385,346 | 5,403,373 |
| essv6367298 | Remapped | Perfect | NC_000009.12:g.538 5346_5403373delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 5,385,346 | 5,403,373 |
| essv6521205 | Remapped | Perfect | NC_000009.12:g.538 5346_5403373delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 5,385,346 | 5,403,373 |
| essv6532467 | Remapped | Perfect | NC_000009.12:g.538 5346_5403373delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 5,385,346 | 5,403,373 |
| essv5601674 | Submitted genomic | NC_000009.11:g.538 5346_5403373delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 5,385,346 | 5,403,373 | ||
| essv5677332 | Submitted genomic | NC_000009.11:g.538 5346_5403373delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 5,385,346 | 5,403,373 | ||
| essv5694171 | Submitted genomic | NC_000009.11:g.538 5346_5403373delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 5,385,346 | 5,403,373 | ||
| essv6097987 | Submitted genomic | NC_000009.11:g.538 5346_5403373delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 5,385,346 | 5,403,373 | ||
| essv6367298 | Submitted genomic | NC_000009.11:g.538 5346_5403373delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 5,385,346 | 5,403,373 | ||
| essv6521205 | Submitted genomic | NC_000009.11:g.538 5346_5403373delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 5,385,346 | 5,403,373 | ||
| essv6532467 | Submitted genomic | NC_000009.11:g.538 5346_5403373delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 5,385,346 | 5,403,373 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6367298 | 7 | SAMN00000568 | SNP array | Probe signal intensity | Pass |
| essv5601674 | 7 | SAMN00001134 | SNP array | Probe signal intensity | Pass |
| essv6532467 | 7 | SAMN00001147 | SNP array | Probe signal intensity | Pass |
| essv5694171 | 7 | SAMN00001167 | SNP array | Probe signal intensity | Pass |
| essv6097987 | 7 | SAMN00001174 | SNP array | Probe signal intensity | Pass |
| essv6521205 | 7 | SAMN00007728 | SNP array | Probe signal intensity | Pass |
| essv5677332 | 7 | SAMN00007797 | SNP array | Probe signal intensity | Pass |