esv18943
- 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:Yes
- Clinical Assertions: No
- Region Size:214,170
- 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: 836 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 837 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 257 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv18943 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 12,646,987 | 12,861,156 |
| esv18943 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 12,627,634 | 12,841,804 |
| esv18943 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 12,575,634 | 12,789,804 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv77078 | Remapped | Perfect | NC_000020.11:g.(?_ 12646987)_(1286115 6_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 12,646,987 | 12,861,156 |
| essv77078 | Remapped | Perfect | NC_000020.10:g.(?_ 12627634)_(1284180 4_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 12,627,634 | 12,841,804 |
| essv77078 | Submitted genomic | NC_000020.9:g.(?_1 2575634)_(12789804 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 12,575,634 | 12,789,804 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv77078 | 2 | NA18511 | Oligo aCGH | Probe signal intensity | Pass |