esv3482930
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:10
- Validation:Yes
- Clinical Assertions: No
- Region Size:13,840
- Publication(s):1000 Genomes Project Consortium et al. 2010
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: 627 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 629 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 384 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3482930 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| esv3482930 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| esv3482930 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 504,141 (-101, +93) | 517,980 (-112, +95) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9153856 | deletion | SAMN00001588 | Sequencing | Paired-end mapping | 10,183 |
| essv9153857 | deletion | SAMN00001694 | Sequencing | Paired-end mapping | 29,487 |
| essv9153859 | deletion | SAMN00001671 | Sequencing | Paired-end mapping | 10,275 |
| essv9153860 | deletion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
| essv9153861 | deletion | SAMN00001581 | Sequencing | Paired-end mapping | 12,254 |
| essv9153862 | deletion | SAMN00001697 | Sequencing | Paired-end mapping | 21,017 |
| essv9153863 | deletion | SAMN00001590 | Sequencing | Paired-end mapping | 10,131 |
| essv9153864 | deletion | SAMN00001685 | Sequencing | Paired-end mapping | 10,254 |
| essv9153865 | deletion | SAMN00001579 | Sequencing | Paired-end mapping | 10,322 |
| essv9153866 | deletion | SAMN00001630 | Sequencing | Paired-end mapping | 10,735 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9153856 | Remapped | Perfect | NC_000009.12:g.(51 4040_514234)_(5278 68_528075)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153857 | Remapped | Perfect | NC_000009.12:g.(51 4040_514234)_(5278 68_528075)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153859 | Remapped | Perfect | NC_000009.12:g.(51 4040_514234)_(5278 68_528075)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153860 | Remapped | Perfect | NC_000009.12:g.(51 4040_514234)_(5278 68_528075)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153861 | Remapped | Perfect | NC_000009.12:g.(51 4040_514234)_(5278 68_528075)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153862 | Remapped | Perfect | NC_000009.12:g.(51 4040_514234)_(5278 68_528075)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153863 | Remapped | Perfect | NC_000009.12:g.(51 4040_514234)_(5278 68_528075)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153864 | Remapped | Perfect | NC_000009.12:g.(51 4040_514234)_(5278 68_528075)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153865 | Remapped | Perfect | NC_000009.12:g.(51 4040_514234)_(5278 68_528075)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153866 | Remapped | Perfect | NC_000009.12:g.(51 4040_514234)_(5278 68_528075)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153856 | Remapped | Perfect | NC_000009.11:g.(51 4040_514234)_(5278 68_528075)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153857 | Remapped | Perfect | NC_000009.11:g.(51 4040_514234)_(5278 68_528075)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153859 | Remapped | Perfect | NC_000009.11:g.(51 4040_514234)_(5278 68_528075)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153860 | Remapped | Perfect | NC_000009.11:g.(51 4040_514234)_(5278 68_528075)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153861 | Remapped | Perfect | NC_000009.11:g.(51 4040_514234)_(5278 68_528075)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153862 | Remapped | Perfect | NC_000009.11:g.(51 4040_514234)_(5278 68_528075)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153863 | Remapped | Perfect | NC_000009.11:g.(51 4040_514234)_(5278 68_528075)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153864 | Remapped | Perfect | NC_000009.11:g.(51 4040_514234)_(5278 68_528075)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153865 | Remapped | Perfect | NC_000009.11:g.(51 4040_514234)_(5278 68_528075)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153866 | Remapped | Perfect | NC_000009.11:g.(51 4040_514234)_(5278 68_528075)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 514,141 (-101, +93) | 527,980 (-112, +95) |
| essv9153856 | Submitted genomic | NC_000009.10:g.(50 4040_504234)_(5178 68_518075)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 504,141 (-101, +93) | 517,980 (-112, +95) | ||
| essv9153857 | Submitted genomic | NC_000009.10:g.(50 4040_504234)_(5178 68_518075)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 504,141 (-101, +93) | 517,980 (-112, +95) | ||
| essv9153859 | Submitted genomic | NC_000009.10:g.(50 4040_504234)_(5178 68_518075)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 504,141 (-101, +93) | 517,980 (-112, +95) | ||
| essv9153860 | Submitted genomic | NC_000009.10:g.(50 4040_504234)_(5178 68_518075)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 504,141 (-101, +93) | 517,980 (-112, +95) | ||
| essv9153861 | Submitted genomic | NC_000009.10:g.(50 4040_504234)_(5178 68_518075)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 504,141 (-101, +93) | 517,980 (-112, +95) | ||
| essv9153862 | Submitted genomic | NC_000009.10:g.(50 4040_504234)_(5178 68_518075)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 504,141 (-101, +93) | 517,980 (-112, +95) | ||
| essv9153863 | Submitted genomic | NC_000009.10:g.(50 4040_504234)_(5178 68_518075)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 504,141 (-101, +93) | 517,980 (-112, +95) | ||
| essv9153864 | Submitted genomic | NC_000009.10:g.(50 4040_504234)_(5178 68_518075)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 504,141 (-101, +93) | 517,980 (-112, +95) | ||
| essv9153865 | Submitted genomic | NC_000009.10:g.(50 4040_504234)_(5178 68_518075)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 504,141 (-101, +93) | 517,980 (-112, +95) | ||
| essv9153866 | Submitted genomic | NC_000009.10:g.(50 4040_504234)_(5178 68_518075)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 504,141 (-101, +93) | 517,980 (-112, +95) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9153865 | 36 | SAMN00001579 | Digital array | Other | Pass |
| essv9153865 | 38 | SAMN00001579 | Digital array | Other | Pass |
| essv9153861 | 36 | SAMN00001581 | Digital array | Other | Pass |
| essv9153861 | 38 | SAMN00001581 | Digital array | Other | Pass |
| essv9153856 | 36 | SAMN00001588 | Digital array | Other | Pass |
| essv9153856 | 38 | SAMN00001588 | Digital array | Other | Pass |
| essv9153863 | 36 | SAMN00001590 | Digital array | Other | Pass |
| essv9153863 | 38 | SAMN00001590 | Digital array | Other | Pass |
| essv9153866 | 36 | SAMN00001630 | Digital array | Other | Pass |
| essv9153866 | 38 | SAMN00001630 | Digital array | Other | Pass |
| essv9153859 | 36 | SAMN00001671 | Digital array | Other | Pass |
| essv9153859 | 38 | SAMN00001671 | Digital array | Other | Pass |
| essv9153864 | 36 | SAMN00001685 | Digital array | Other | Pass |
| essv9153864 | 38 | SAMN00001685 | Digital array | Other | Pass |
| essv9153857 | 36 | SAMN00001694 | Digital array | Other | Pass |
| essv9153857 | 38 | SAMN00001694 | Digital array | Other | Pass |
| essv9153860 | 36 | SAMN00001696 | Digital array | Other | Pass |
| essv9153860 | 38 | SAMN00001696 | Digital array | Other | Pass |
| essv9153862 | 36 | SAMN00001697 | Digital array | Other | Pass |
| essv9153862 | 38 | SAMN00001697 | Digital array | Other | Pass |
| essv9153865 | 37 | SAMN00001579 | Sequencing | de novo sequence assembly | Pass |
| essv9153861 | 37 | SAMN00001581 | Sequencing | de novo sequence assembly | Pass |
| essv9153856 | 37 | SAMN00001588 | Sequencing | de novo sequence assembly | Pass |
| essv9153863 | 37 | SAMN00001590 | Sequencing | de novo sequence assembly | Pass |
| essv9153866 | 37 | SAMN00001630 | Sequencing | de novo sequence assembly | Pass |
| essv9153859 | 37 | SAMN00001671 | Sequencing | de novo sequence assembly | Pass |
| essv9153864 | 37 | SAMN00001685 | Sequencing | de novo sequence assembly | Pass |
| essv9153857 | 37 | SAMN00001694 | Sequencing | de novo sequence assembly | Pass |
| essv9153860 | 37 | SAMN00001696 | Sequencing | de novo sequence assembly | Pass |
| essv9153862 | 37 | SAMN00001697 | Sequencing | de novo sequence assembly | Pass |