esv2671527
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Yes
- Clinical Assertions: No
- Region Size:12,825
- 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: 190 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2671527 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 210,428,015 | 210,440,839 |
| esv2671527 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 207,757 | 220,581 |
| esv2671527 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 210,601,359 | 210,614,183 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5749816 | deletion | SAMN00007873 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 791 |
| essv6200430 | deletion | SAMN00000568 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,629 |
| essv6227615 | deletion | SAMN00001192 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,334 |
| essv6266649 | deletion | SAMN00007747 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,108 |
| essv6446432 | deletion | SAMN00001188 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,129 |
| essv6509610 | deletion | SAMN00001155 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,570 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5749816 | Remapped | Perfect | NW_011332687.1:g.2 07757_220581delT | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 207,757 | 220,581 |
| essv6200430 | Remapped | Perfect | NW_011332687.1:g.2 07757_220581delT | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 207,757 | 220,581 |
| essv6227615 | Remapped | Perfect | NW_011332687.1:g.2 07757_220581delT | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 207,757 | 220,581 |
| essv6266649 | Remapped | Perfect | NW_011332687.1:g.2 07757_220581delT | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 207,757 | 220,581 |
| essv6446432 | Remapped | Perfect | NW_011332687.1:g.2 07757_220581delT | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 207,757 | 220,581 |
| essv6509610 | Remapped | Perfect | NW_011332687.1:g.2 07757_220581delT | GRCh38.p12 | Second Pass | NW_011332687.1 | Chr1|NW_01 1332687.1 | 207,757 | 220,581 |
| essv5749816 | Remapped | Perfect | NC_000001.11:g.210 428015_210440839de lT | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,428,015 | 210,440,839 |
| essv6200430 | Remapped | Perfect | NC_000001.11:g.210 428015_210440839de lT | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,428,015 | 210,440,839 |
| essv6227615 | Remapped | Perfect | NC_000001.11:g.210 428015_210440839de lT | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,428,015 | 210,440,839 |
| essv6266649 | Remapped | Perfect | NC_000001.11:g.210 428015_210440839de lT | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,428,015 | 210,440,839 |
| essv6446432 | Remapped | Perfect | NC_000001.11:g.210 428015_210440839de lT | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,428,015 | 210,440,839 |
| essv6509610 | Remapped | Perfect | NC_000001.11:g.210 428015_210440839de lT | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 210,428,015 | 210,440,839 |
| essv5749816 | Submitted genomic | NC_000001.10:g.210 601359_210614183de lT | GRCh37 (hg19) | NC_000001.10 | Chr1 | 210,601,359 | 210,614,183 | ||
| essv6200430 | Submitted genomic | NC_000001.10:g.210 601359_210614183de lT | GRCh37 (hg19) | NC_000001.10 | Chr1 | 210,601,359 | 210,614,183 | ||
| essv6227615 | Submitted genomic | NC_000001.10:g.210 601359_210614183de lT | GRCh37 (hg19) | NC_000001.10 | Chr1 | 210,601,359 | 210,614,183 | ||
| essv6266649 | Submitted genomic | NC_000001.10:g.210 601359_210614183de lT | GRCh37 (hg19) | NC_000001.10 | Chr1 | 210,601,359 | 210,614,183 | ||
| essv6446432 | Submitted genomic | NC_000001.10:g.210 601359_210614183de lT | GRCh37 (hg19) | NC_000001.10 | Chr1 | 210,601,359 | 210,614,183 | ||
| essv6509610 | Submitted genomic | NC_000001.10:g.210 601359_210614183de lT | GRCh37 (hg19) | NC_000001.10 | Chr1 | 210,601,359 | 210,614,183 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6200430 | 7 | SAMN00000568 | SNP array | Probe signal intensity | Pass |
| essv6509610 | 7 | SAMN00001155 | SNP array | Probe signal intensity | Pass |
| essv6446432 | 7 | SAMN00001188 | SNP array | Probe signal intensity | Pass |
| essv6227615 | 7 | SAMN00001192 | SNP array | Probe signal intensity | Pass |
| essv6266649 | 7 | SAMN00007747 | SNP array | Probe signal intensity | Pass |
| essv5749816 | 7 | SAMN00007873 | SNP array | Probe signal intensity | Pass |