esv275315
- 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:16,070
- 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: 197 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 197 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 57 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275315 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 76,119,271 | 76,126,154 | 76,131,975 | 76,135,340 |
| esv275315 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 77,040,424 | 77,047,307 | 77,053,128 | 77,056,493 |
| esv275315 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 77,259,448 | 77,266,331 | 77,272,152 | 77,275,517 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585633 | copy number loss | SNP array | Other |
| essv2586157 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585633 | Remapped | Perfect | NC_000004.12:g.(76 119271_76126154)_( 76131975_76135340) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 76,119,271 | 76,126,154 | 76,131,975 | 76,135,340 |
| essv2586157 | Remapped | Perfect | NC_000004.12:g.(76 119271_76126154)_( 76131975_76135340) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 76,119,271 | 76,126,154 | 76,131,975 | 76,135,340 |
| essv2585633 | Remapped | Perfect | NC_000004.11:g.(77 040424_77047307)_( 77053128_77056493) del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 77,040,424 | 77,047,307 | 77,053,128 | 77,056,493 |
| essv2586157 | Remapped | Perfect | NC_000004.11:g.(77 040424_77047307)_( 77053128_77056493) dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 77,040,424 | 77,047,307 | 77,053,128 | 77,056,493 |
| essv2585633 | Submitted genomic | NC_000004.10:g.(77 259448_77266331)_( 77272152_77275517) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 77,259,448 | 77,266,331 | 77,272,152 | 77,275,517 | ||
| essv2586157 | Submitted genomic | NC_000004.10:g.(77 259448_77266331)_( 77272152_77275517) dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 77,259,448 | 77,266,331 | 77,272,152 | 77,275,517 |