esv275348
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,436
- 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: 229 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 229 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275348 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,274,257 | 50,275,001 | 50,287,608 | 50,287,692 |
| esv275348 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 50,501,395 | 50,502,139 | 50,514,746 | 50,514,830 |
| esv275348 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 50,354,899 | 50,355,643 | 50,368,250 | 50,368,334 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585402 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585402 | Remapped | Perfect | NC_000002.12:g.(50 274257_50275001)_( 50287608_50287692) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,274,257 | 50,275,001 | 50,287,608 | 50,287,692 |
| essv2585402 | Remapped | Perfect | NC_000002.11:g.(50 501395_50502139)_( 50514746_50514830) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 50,501,395 | 50,502,139 | 50,514,746 | 50,514,830 |
| essv2585402 | Submitted genomic | NC_000002.10:g.(50 354899_50355643)_( 50368250_50368334) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 50,354,899 | 50,355,643 | 50,368,250 | 50,368,334 |