esv275287
- 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:14,743
- 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: 563 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 563 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 343 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275287 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 80,118,818 | 80,119,020 | 80,132,742 | 80,133,560 |
| esv275287 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 77,876,701 | 77,876,903 | 77,890,625 | 77,891,443 |
| esv275287 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 75,977,692 | 75,977,894 | 75,991,616 | 75,992,434 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585492 | copy number gain | SNP array | Other |
| essv2586121 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585492 | Remapped | Perfect | NC_000018.10:g.(80 118818_80119020)_( 80132742_80133560) dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 80,118,818 | 80,119,020 | 80,132,742 | 80,133,560 |
| essv2586121 | Remapped | Perfect | NC_000018.10:g.(80 118818_80119020)_( 80132742_80133560) del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 80,118,818 | 80,119,020 | 80,132,742 | 80,133,560 |
| essv2585492 | Remapped | Perfect | NC_000018.9:g.(778 76701_77876903)_(7 7890625_77891443)d up | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 77,876,701 | 77,876,903 | 77,890,625 | 77,891,443 |
| essv2586121 | Remapped | Perfect | NC_000018.9:g.(778 76701_77876903)_(7 7890625_77891443)d el | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 77,876,701 | 77,876,903 | 77,890,625 | 77,891,443 |
| essv2585492 | Submitted genomic | NC_000018.8:g.(759 77692_75977894)_(7 5991616_75992434)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 75,977,692 | 75,977,894 | 75,991,616 | 75,992,434 | ||
| essv2586121 | Submitted genomic | NC_000018.8:g.(759 77692_75977894)_(7 5991616_75992434)d el | NCBI36 (hg18) | NC_000018.8 | Chr18 | 75,977,692 | 75,977,894 | 75,991,616 | 75,992,434 |