esv16739
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:229,214
- Publication(s):Conrad et al. 2009
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: 787 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 788 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 256 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv16739 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 205,034,047 | 205,263,260 |
| esv16739 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 205,898,770 | 206,127,984 |
| esv16739 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 205,607,015 | 205,836,229 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv73945 | Remapped | Perfect | NC_000002.12:g.(?_ 205034047)_(205263 260_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 205,034,047 | 205,263,260 |
| essv73945 | Remapped | Perfect | NC_000002.11:g.(?_ 205898770)_(206127 984_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 205,898,770 | 206,127,984 |
| essv73945 | Submitted genomic | NC_000002.10:g.(?_ 205607015)_(205836 229_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 205,607,015 | 205,836,229 |