esv274922
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,973
- Publication(s):Banerjee et al. 2011
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: 214 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 214 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 14 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv274922 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 144,788,396 | 144,788,445 | 144,801,987 | 144,802,368 |
esv274922 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 144,485,489 | 144,485,538 | 144,499,080 | 144,499,461 |
esv274922 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 144,116,422 | 144,116,471 | 144,130,013 | 144,130,394 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
essv2585646 | copy number loss | SNP array | Other |
essv2586070 | copy number gain | SNP array | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv2585646 | Remapped | Perfect | NC_000007.14:g.(14 4788396_144788445) _(144801987_144802 368)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 144,788,396 | 144,788,445 | 144,801,987 | 144,802,368 |
essv2586070 | Remapped | Perfect | NC_000007.14:g.(14 4788396_144788445) _(144801987_144802 368)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 144,788,396 | 144,788,445 | 144,801,987 | 144,802,368 |
essv2585646 | Remapped | Perfect | NC_000007.13:g.(14 4485489_144485538) _(144499080_144499 461)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 144,485,489 | 144,485,538 | 144,499,080 | 144,499,461 |
essv2586070 | Remapped | Perfect | NC_000007.13:g.(14 4485489_144485538) _(144499080_144499 461)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 144,485,489 | 144,485,538 | 144,499,080 | 144,499,461 |
essv2585646 | Submitted genomic | NC_000007.12:g.(14 4116422_144116471) _(144130013_144130 394)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 144,116,422 | 144,116,471 | 144,130,013 | 144,130,394 | ||
essv2586070 | Submitted genomic | NC_000007.12:g.(14 4116422_144116471) _(144130013_144130 394)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 144,116,422 | 144,116,471 | 144,130,013 | 144,130,394 |