esv275404
- 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:14,764
- 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: 200 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 200 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 72 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275404 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 186,220,996 | 186,221,069 | 186,235,370 | 186,235,759 |
| esv275404 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 186,190,128 | 186,190,201 | 186,204,502 | 186,204,891 |
| esv275404 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 184,456,751 | 184,456,824 | 184,471,125 | 184,471,514 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585668 | copy number gain | SNP array | Other |
| essv2585874 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585668 | Remapped | Perfect | NC_000001.11:g.(18 6220996_186221069) _(186235370_186235 759)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 186,220,996 | 186,221,069 | 186,235,370 | 186,235,759 |
| essv2585874 | Remapped | Perfect | NC_000001.11:g.(18 6220996_186221069) _(186235370_186235 759)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 186,220,996 | 186,221,069 | 186,235,370 | 186,235,759 |
| essv2585668 | Remapped | Perfect | NC_000001.10:g.(18 6190128_186190201) _(186204502_186204 891)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 186,190,128 | 186,190,201 | 186,204,502 | 186,204,891 |
| essv2585874 | Remapped | Perfect | NC_000001.10:g.(18 6190128_186190201) _(186204502_186204 891)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 186,190,128 | 186,190,201 | 186,204,502 | 186,204,891 |
| essv2585668 | Submitted genomic | NC_000001.9:g.(184 456751_184456824)_ (184471125_1844715 14)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 184,456,751 | 184,456,824 | 184,471,125 | 184,471,514 | ||
| essv2585874 | Submitted genomic | NC_000001.9:g.(184 456751_184456824)_ (184471125_1844715 14)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 184,456,751 | 184,456,824 | 184,471,125 | 184,471,514 |