esv2657341
- 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:18,071
- 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: 1006 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1008 SVs from 83 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2657341 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 590,595 | 608,665 |
| esv2657341 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 590,595 | 608,665 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5420280 | deletion | SAMN00001149 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,599 |
| essv5438232 | deletion | SAMN00000574 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,208 |
| essv5498153 | deletion | SAMN00014327 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,651 |
| essv5569085 | deletion | SAMN00000476 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,421 |
| essv5606158 | deletion | SAMN00014330 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,706 |
| essv5742475 | deletion | SAMN00001692 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 912 |
| essv5831462 | deletion | SAMN00000571 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,271 |
| essv5969651 | deletion | SAMN00001107 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 943 |
| essv5995664 | deletion | SAMN00001667 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,455 |
| essv6317395 | deletion | SAMN00001157 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,813 |
| essv6482075 | deletion | SAMN00001150 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,706 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5420280 | Remapped | Perfect | NC_000009.12:g.590 595_608665delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 590,595 | 608,665 |
| essv5438232 | Remapped | Perfect | NC_000009.12:g.590 595_608665delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 590,595 | 608,665 |
| essv5498153 | Remapped | Perfect | NC_000009.12:g.590 595_608665delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 590,595 | 608,665 |
| essv5569085 | Remapped | Perfect | NC_000009.12:g.590 595_608665delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 590,595 | 608,665 |
| essv5606158 | Remapped | Perfect | NC_000009.12:g.590 595_608665delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 590,595 | 608,665 |
| essv5742475 | Remapped | Perfect | NC_000009.12:g.590 595_608665delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 590,595 | 608,665 |
| essv5831462 | Remapped | Perfect | NC_000009.12:g.590 595_608665delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 590,595 | 608,665 |
| essv5969651 | Remapped | Perfect | NC_000009.12:g.590 595_608665delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 590,595 | 608,665 |
| essv5995664 | Remapped | Perfect | NC_000009.12:g.590 595_608665delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 590,595 | 608,665 |
| essv6317395 | Remapped | Perfect | NC_000009.12:g.590 595_608665delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 590,595 | 608,665 |
| essv6482075 | Remapped | Perfect | NC_000009.12:g.590 595_608665delT | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 590,595 | 608,665 |
| essv5420280 | Submitted genomic | NC_000009.11:g.590 595_608665delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 590,595 | 608,665 | ||
| essv5438232 | Submitted genomic | NC_000009.11:g.590 595_608665delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 590,595 | 608,665 | ||
| essv5498153 | Submitted genomic | NC_000009.11:g.590 595_608665delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 590,595 | 608,665 | ||
| essv5569085 | Submitted genomic | NC_000009.11:g.590 595_608665delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 590,595 | 608,665 | ||
| essv5606158 | Submitted genomic | NC_000009.11:g.590 595_608665delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 590,595 | 608,665 | ||
| essv5742475 | Submitted genomic | NC_000009.11:g.590 595_608665delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 590,595 | 608,665 | ||
| essv5831462 | Submitted genomic | NC_000009.11:g.590 595_608665delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 590,595 | 608,665 | ||
| essv5969651 | Submitted genomic | NC_000009.11:g.590 595_608665delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 590,595 | 608,665 | ||
| essv5995664 | Submitted genomic | NC_000009.11:g.590 595_608665delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 590,595 | 608,665 | ||
| essv6317395 | Submitted genomic | NC_000009.11:g.590 595_608665delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 590,595 | 608,665 | ||
| essv6482075 | Submitted genomic | NC_000009.11:g.590 595_608665delT | GRCh37 (hg19) | NC_000009.11 | Chr9 | 590,595 | 608,665 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5569085 | 9 | SAMN00000476 | Oligo aCGH | Probe signal intensity | Pass |
| essv5831462 | 9 | SAMN00000571 | Oligo aCGH | Probe signal intensity | Pass |
| essv5438232 | 9 | SAMN00000574 | Oligo aCGH | Probe signal intensity | Pass |
| essv5969651 | 9 | SAMN00001107 | Oligo aCGH | Probe signal intensity | Pass |
| essv5420280 | 9 | SAMN00001149 | Oligo aCGH | Probe signal intensity | Pass |
| essv6482075 | 9 | SAMN00001150 | Oligo aCGH | Probe signal intensity | Pass |
| essv6317395 | 9 | SAMN00001157 | Oligo aCGH | Probe signal intensity | Pass |
| essv5995664 | 9 | SAMN00001667 | Oligo aCGH | Probe signal intensity | Pass |
| essv5742475 | 9 | SAMN00001692 | Oligo aCGH | Probe signal intensity | Pass |
| essv5498153 | 9 | SAMN00014327 | Oligo aCGH | Probe signal intensity | Pass |
| essv5606158 | 9 | SAMN00014330 | Oligo aCGH | Probe signal intensity | Pass |
| essv5569085 | 7 | SAMN00000476 | SNP array | Probe signal intensity | Pass |
| essv5831462 | 7 | SAMN00000571 | SNP array | Probe signal intensity | Pass |
| essv5438232 | 7 | SAMN00000574 | SNP array | Probe signal intensity | Pass |
| essv5969651 | 7 | SAMN00001107 | SNP array | Probe signal intensity | Pass |
| essv5420280 | 7 | SAMN00001149 | SNP array | Probe signal intensity | Pass |
| essv6482075 | 7 | SAMN00001150 | SNP array | Probe signal intensity | Pass |
| essv6317395 | 7 | SAMN00001157 | SNP array | Probe signal intensity | Pass |
| essv5995664 | 7 | SAMN00001667 | SNP array | Probe signal intensity | Pass |
| essv5742475 | 7 | SAMN00001692 | SNP array | Probe signal intensity | Pass |
| essv5498153 | 7 | SAMN00014327 | SNP array | Probe signal intensity | Pass |
| essv5606158 | 7 | SAMN00014330 | SNP array | Probe signal intensity | Pass |