esv999149
- Organism: Homo sapiens
- Study:estd180 (Pang et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:68,471
- 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: 382 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 382 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv999149 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 82,744,093 | 82,812,563 |
| esv999149 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 83,137,872 | 83,206,342 |
| esv999149 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 81,662,003 | 81,730,473 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv3586050 | Remapped | Perfect | NC_000012.12:g.(?_ 82744093)_(8281256 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 82,744,093 | 82,812,563 |
| essv3586050 | Remapped | Perfect | NC_000012.11:g.(?_ 83137872)_(8320634 2_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 83,137,872 | 83,206,342 |
| essv3586050 | Submitted genomic | NC_000012.10:g.(?_ 81662003)_(8173047 3_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 81,662,003 | 81,730,473 |