esv3459702
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Yes
- Clinical Assertions: No
- Region Size:30,423
- 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: 150 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 47 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3459702 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 98,239,724 (-104, +97) | 98,270,146 (-116, +99) |
| esv3459702 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 98,856,187 (-104, +97) | 98,886,609 (-116, +99) |
| esv3459702 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 98,222,619 (-104, +97) | 98,253,041 (-116, +99) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9011345 | deletion | SAMN00001672 | Sequencing | Paired-end mapping | 4,244 |
| essv9011346 | deletion | SAMN00001624 | Sequencing | Paired-end mapping | 10,264 |
| essv9011347 | deletion | SAMN00001680 | Sequencing | Paired-end mapping | 4,399 |
| essv9011349 | deletion | SAMN00001592 | Sequencing | Paired-end mapping | 12,716 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9011345 | Remapped | Perfect | NC_000002.12:g.(98 239620_98239821)_( 98270030_98270245) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,724 (-104, +97) | 98,270,146 (-116, +99) |
| essv9011346 | Remapped | Perfect | NC_000002.12:g.(98 239620_98239821)_( 98270030_98270245) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,724 (-104, +97) | 98,270,146 (-116, +99) |
| essv9011347 | Remapped | Perfect | NC_000002.12:g.(98 239620_98239821)_( 98270030_98270245) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,724 (-104, +97) | 98,270,146 (-116, +99) |
| essv9011349 | Remapped | Perfect | NC_000002.12:g.(98 239620_98239821)_( 98270030_98270245) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 98,239,724 (-104, +97) | 98,270,146 (-116, +99) |
| essv9011345 | Remapped | Perfect | NC_000002.11:g.(98 856083_98856284)_( 98886493_98886708) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 98,856,187 (-104, +97) | 98,886,609 (-116, +99) |
| essv9011346 | Remapped | Perfect | NC_000002.11:g.(98 856083_98856284)_( 98886493_98886708) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 98,856,187 (-104, +97) | 98,886,609 (-116, +99) |
| essv9011347 | Remapped | Perfect | NC_000002.11:g.(98 856083_98856284)_( 98886493_98886708) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 98,856,187 (-104, +97) | 98,886,609 (-116, +99) |
| essv9011349 | Remapped | Perfect | NC_000002.11:g.(98 856083_98856284)_( 98886493_98886708) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 98,856,187 (-104, +97) | 98,886,609 (-116, +99) |
| essv9011345 | Submitted genomic | NC_000002.10:g.(98 222515_98222716)_( 98252925_98253140) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 98,222,619 (-104, +97) | 98,253,041 (-116, +99) | ||
| essv9011346 | Submitted genomic | NC_000002.10:g.(98 222515_98222716)_( 98252925_98253140) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 98,222,619 (-104, +97) | 98,253,041 (-116, +99) | ||
| essv9011347 | Submitted genomic | NC_000002.10:g.(98 222515_98222716)_( 98252925_98253140) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 98,222,619 (-104, +97) | 98,253,041 (-116, +99) | ||
| essv9011349 | Submitted genomic | NC_000002.10:g.(98 222515_98222716)_( 98252925_98253140) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 98,222,619 (-104, +97) | 98,253,041 (-116, +99) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9011349 | 36 | SAMN00001592 | Digital array | Other | Pass |
| essv9011349 | 38 | SAMN00001592 | Digital array | Other | Pass |
| essv9011346 | 36 | SAMN00001624 | Digital array | Other | Pass |
| essv9011346 | 38 | SAMN00001624 | Digital array | Other | Pass |
| essv9011345 | 36 | SAMN00001672 | Digital array | Other | Pass |
| essv9011345 | 38 | SAMN00001672 | Digital array | Other | Pass |
| essv9011347 | 36 | SAMN00001680 | Digital array | Other | Pass |
| essv9011347 | 38 | SAMN00001680 | Digital array | Other | Pass |
| essv9011349 | 37 | SAMN00001592 | Sequencing | de novo sequence assembly | Pass |
| essv9011346 | 37 | SAMN00001624 | Sequencing | de novo sequence assembly | Pass |
| essv9011345 | 37 | SAMN00001672 | Sequencing | de novo sequence assembly | Pass |
| essv9011347 | 37 | SAMN00001680 | Sequencing | de novo sequence assembly | Pass |