esv2757512
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:104,109
- Publication(s):Redon et al. 2006
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: 357 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2757512 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 74,716,021 | 74,820,129 |
| esv2757512 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 75,109,801 | 75,213,909 |
| esv2757512 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 73,396,068 | 73,500,176 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv12918 | Remapped | Perfect | NC_000012.12:g.(74 716021_74728217)_( 74818015_74820129) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 74,716,021 | 74,728,217 | 74,818,015 | 74,820,129 |
| essv12918 | Remapped | Perfect | NC_000012.11:g.(75 109801_75121997)_( 75211795_75213909) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 75,109,801 | 75,121,997 | 75,211,795 | 75,213,909 |
| essv12918 | Submitted genomic | NC_000012.9:g.(733 96068_73408264)_(7 3498062_73500176)d up | NCBI35 (hg17) | NC_000012.9 | Chr12 | 73,396,068 | 73,408,264 | 73,498,062 | 73,500,176 |