esv2671709
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:3
- Validation:Yes
- Clinical Assertions: No
- Region Size:3,102
- 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: 506 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 505 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2671709 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 144,492,586 | 144,495,687 |
| esv2671709 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 145,717,969 | 145,721,070 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5438384 | deletion | SAMN00801372 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 974 |
| essv5750164 | deletion | SAMN00801422 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,289 |
| essv6586149 | deletion | SAMN00001317 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 809 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5438384 | Remapped | Perfect | NC_000008.11:g.144 492586_144495687de lC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,492,586 | 144,495,687 |
| essv5750164 | Remapped | Perfect | NC_000008.11:g.144 492586_144495687de lC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,492,586 | 144,495,687 |
| essv6586149 | Remapped | Perfect | NC_000008.11:g.144 492586_144495687de lC | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,492,586 | 144,495,687 |
| essv5438384 | Submitted genomic | NC_000008.10:g.145 717969_145721070de lC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 145,717,969 | 145,721,070 | ||
| essv5750164 | Submitted genomic | NC_000008.10:g.145 717969_145721070de lC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 145,717,969 | 145,721,070 | ||
| essv6586149 | Submitted genomic | NC_000008.10:g.145 717969_145721070de lC | GRCh37 (hg19) | NC_000008.10 | Chr8 | 145,717,969 | 145,721,070 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6586149 | 7 | SAMN00001317 | SNP array | Probe signal intensity | Pass |
| essv5438384 | 7 | SAMN00801372 | SNP array | Probe signal intensity | Pass |
| essv5750164 | 7 | SAMN00801422 | SNP array | Probe signal intensity | Pass |