esv990421
- 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:12,466
- 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: 72 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv990421 | Remapped | Pass | GRCh38.p12 | PATCHES | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 157,796 | 170,261 |
| esv990421 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 40,386,080 | 40,401,025 |
| esv990421 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 45,077,920 | 45,092,865 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv3586647 | Remapped | Pass | NW_009646206.1:g.( ?_157796)_(170261_ ?)dup | GRCh38.p12 | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 157,796 | 170,261 |
| essv3586647 | Remapped | Perfect | NC_000019.9:g.(?_4 0386080)_(40401025 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 40,386,080 | 40,401,025 |
| essv3586647 | Submitted genomic | NC_000019.8:g.(?_4 5077920)_(45092865 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 45,077,920 | 45,092,865 |