esv2671766
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Yes
- Clinical Assertions: No
- Region Size:7,939
- 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: 214 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 214 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2671766 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 192,587,087 | 192,595,025 |
| esv2671766 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 192,304,876 | 192,312,814 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5468936 | deletion | SAMN00009186 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,372 |
| essv5519635 | deletion | SAMN00001278 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 870 |
| essv5707867 | deletion | SAMN00001333 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 927 |
| essv5829593 | deletion | SAMN00801029 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,068 |
| essv5835383 | deletion | SAMN00007731 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,153 |
| essv5974958 | deletion | SAMN00797406 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,361 |
| essv6093307 | deletion | SAMN00001290 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 864 |
| essv6367358 | deletion | SAMN00001248 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 840 |
| essv6481811 | deletion | SAMN00001247 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,015 |
| essv6550623 | deletion | SAMN00016966 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,024 |
| essv6587795 | deletion | SAMN00009140 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,417 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5468936 | Remapped | Perfect | NC_000003.12:g.192 587087_192595025de lA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,587,087 | 192,595,025 |
| essv5519635 | Remapped | Perfect | NC_000003.12:g.192 587087_192595025de lA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,587,087 | 192,595,025 |
| essv5707867 | Remapped | Perfect | NC_000003.12:g.192 587087_192595025de lA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,587,087 | 192,595,025 |
| essv5829593 | Remapped | Perfect | NC_000003.12:g.192 587087_192595025de lA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,587,087 | 192,595,025 |
| essv5835383 | Remapped | Perfect | NC_000003.12:g.192 587087_192595025de lA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,587,087 | 192,595,025 |
| essv5974958 | Remapped | Perfect | NC_000003.12:g.192 587087_192595025de lA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,587,087 | 192,595,025 |
| essv6093307 | Remapped | Perfect | NC_000003.12:g.192 587087_192595025de lA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,587,087 | 192,595,025 |
| essv6367358 | Remapped | Perfect | NC_000003.12:g.192 587087_192595025de lA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,587,087 | 192,595,025 |
| essv6481811 | Remapped | Perfect | NC_000003.12:g.192 587087_192595025de lA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,587,087 | 192,595,025 |
| essv6550623 | Remapped | Perfect | NC_000003.12:g.192 587087_192595025de lA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,587,087 | 192,595,025 |
| essv6587795 | Remapped | Perfect | NC_000003.12:g.192 587087_192595025de lA | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 192,587,087 | 192,595,025 |
| essv5468936 | Submitted genomic | NC_000003.11:g.192 304876_192312814de lA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,304,876 | 192,312,814 | ||
| essv5519635 | Submitted genomic | NC_000003.11:g.192 304876_192312814de lA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,304,876 | 192,312,814 | ||
| essv5707867 | Submitted genomic | NC_000003.11:g.192 304876_192312814de lA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,304,876 | 192,312,814 | ||
| essv5829593 | Submitted genomic | NC_000003.11:g.192 304876_192312814de lA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,304,876 | 192,312,814 | ||
| essv5835383 | Submitted genomic | NC_000003.11:g.192 304876_192312814de lA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,304,876 | 192,312,814 | ||
| essv5974958 | Submitted genomic | NC_000003.11:g.192 304876_192312814de lA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,304,876 | 192,312,814 | ||
| essv6093307 | Submitted genomic | NC_000003.11:g.192 304876_192312814de lA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,304,876 | 192,312,814 | ||
| essv6367358 | Submitted genomic | NC_000003.11:g.192 304876_192312814de lA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,304,876 | 192,312,814 | ||
| essv6481811 | Submitted genomic | NC_000003.11:g.192 304876_192312814de lA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,304,876 | 192,312,814 | ||
| essv6550623 | Submitted genomic | NC_000003.11:g.192 304876_192312814de lA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,304,876 | 192,312,814 | ||
| essv6587795 | Submitted genomic | NC_000003.11:g.192 304876_192312814de lA | GRCh37 (hg19) | NC_000003.11 | Chr3 | 192,304,876 | 192,312,814 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6481811 | 7 | SAMN00001247 | SNP array | Probe signal intensity | Pass |
| essv6367358 | 7 | SAMN00001248 | SNP array | Probe signal intensity | Pass |
| essv5519635 | 7 | SAMN00001278 | SNP array | Probe signal intensity | Pass |
| essv6093307 | 7 | SAMN00001290 | SNP array | Probe signal intensity | Pass |
| essv5707867 | 7 | SAMN00001333 | SNP array | Probe signal intensity | Pass |
| essv5835383 | 7 | SAMN00007731 | SNP array | Probe signal intensity | Pass |
| essv6587795 | 7 | SAMN00009140 | SNP array | Probe signal intensity | Pass |
| essv5468936 | 7 | SAMN00009186 | SNP array | Probe signal intensity | Pass |
| essv6550623 | 7 | SAMN00016966 | SNP array | Probe signal intensity | Pass |
| essv5974958 | 7 | SAMN00797406 | SNP array | Probe signal intensity | Pass |
| essv5829593 | 7 | SAMN00801029 | SNP array | Probe signal intensity | Pass |