esv3477462
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:190,605
- 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: 1199 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1199 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 464 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3477462 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 111,427,882 (-127, +121) | 111,618,486 (-136, +122) |
| esv3477462 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 111,067,938 (-127, +121) | 111,258,542 (-136, +122) |
| esv3477462 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 110,855,174 (-127, +121) | 111,045,778 (-136, +122) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9130377 | deletion | SAMN00001640 | Sequencing | Paired-end mapping | 13,740 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9130377 | Remapped | Perfect | NC_000007.14:g.(11 1427755_111428003) _(111618350_111618 608)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,427,882 (-127, +121) | 111,618,486 (-136, +122) |
| essv9130377 | Remapped | Perfect | NC_000007.13:g.(11 1067811_111068059) _(111258406_111258 664)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,067,938 (-127, +121) | 111,258,542 (-136, +122) |
| essv9130377 | Submitted genomic | NC_000007.12:g.(11 0855047_110855295) _(111045642_111045 900)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 110,855,174 (-127, +121) | 111,045,778 (-136, +122) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv9130377 | 36 | SAMN00001640 | Digital array | Other | Pass |
| essv9130377 | 38 | SAMN00001640 | Digital array | Other | Pass |