esv990249
- Organism: Homo sapiens
- Study:estd180 (Pang et al. 2010)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,413
- Publication(s):Pang et al. 2010
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: 378 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 372 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv990249 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 14,074,543 | 14,098,955 |
| esv990249 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 15,446,864 | 15,471,276 |
| esv990249 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 14,368,735 | 14,393,147 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv3586501 | Remapped | Perfect | NC_000021.9:g.(?_1 4074543)_(14098955 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 14,074,543 | 14,098,955 |
| essv3586501 | Remapped | Perfect | NC_000021.8:g.(?_1 5446864)_(15471276 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 15,446,864 | 15,471,276 |
| essv3586501 | Submitted genomic | NC_000021.7:g.(?_1 4368735)_(14393147 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 14,368,735 | 14,393,147 |