esv274978
- 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:26,387
- 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: 177 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 177 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv274978 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 38,059,330 | 38,072,635 | 38,072,951 | 38,085,716 |
| esv274978 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 38,633,467 | 38,646,772 | 38,647,088 | 38,659,853 |
| esv274978 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 37,531,467 | 37,544,772 | 37,545,088 | 37,557,853 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585427 | copy number gain | SNP array | Other |
| essv2586188 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585427 | Remapped | Perfect | NC_000013.11:g.(38 059330_38072635)_( 38072951_38085716) dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 38,059,330 | 38,072,635 | 38,072,951 | 38,085,716 |
| essv2586188 | Remapped | Perfect | NC_000013.11:g.(38 059330_38072635)_( 38072951_38085716) del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 38,059,330 | 38,072,635 | 38,072,951 | 38,085,716 |
| essv2585427 | Remapped | Perfect | NC_000013.10:g.(38 633467_38646772)_( 38647088_38659853) dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,633,467 | 38,646,772 | 38,647,088 | 38,659,853 |
| essv2586188 | Remapped | Perfect | NC_000013.10:g.(38 633467_38646772)_( 38647088_38659853) del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 38,633,467 | 38,646,772 | 38,647,088 | 38,659,853 |
| essv2585427 | Submitted genomic | NC_000013.9:g.(375 31467_37544772)_(3 7545088_37557853)d up | NCBI36 (hg18) | NC_000013.9 | Chr13 | 37,531,467 | 37,544,772 | 37,545,088 | 37,557,853 | ||
| essv2586188 | Submitted genomic | NC_000013.9:g.(375 31467_37544772)_(3 7545088_37557853)d el | NCBI36 (hg18) | NC_000013.9 | Chr13 | 37,531,467 | 37,544,772 | 37,545,088 | 37,557,853 |