esv30003
- Organism: Homo sapiens
- Study:estd22 (Levy et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:68,744
- Publication(s):Levy 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: 637 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 582 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv30003 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 144,221,329 | 144,290,072 |
| esv30003 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 145,276,232 | 145,513,753 |
| esv30003 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 145,348,220 | 145,484,561 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv84242 | Remapped | Pass | NC_000008.11:g.(?_ 144221329)_(144290 072_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,221,329 | 144,290,072 |
| essv84242 | Remapped | Pass | NC_000008.10:g.(?_ 145276232)_(145513 753_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 145,276,232 | 145,513,753 |
| essv84242 | Submitted genomic | NC_000008.9:g.(?_1 45348220)_(1454845 61_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 145,348,220 | 145,484,561 |