esv2753047
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,250,973
- Publication(s):Pinto et al. 2007
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: 3200 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 2163 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 25 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2753047 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 34,246,100 | 37,497,072 |
| esv2753047 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 34,399,035 | 37,890,874 |
| esv2753047 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 34,290,302 | 36,177,141 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6978445 | Remapped | Pass | NC_000012.12:g.(?_ 34246100)_(3749707 2_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 34,246,100 | 37,497,072 |
| essv6978445 | Remapped | Pass | NC_000012.11:g.(?_ 34399035)_(3789087 4_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,399,035 | 37,890,874 |
| essv6978445 | Submitted genomic | NC_000012.9:g.(?_3 4290302)_(36177141 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 34,290,302 | 36,177,141 |