esv29947
- Organism: Homo sapiens
- Study:estd21 (Wheeler et al. 2008)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:26,374
- Publication(s):Wheeler et al. 2008
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: 513 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 513 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 222 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv29947 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 38,963,107 | 38,989,480 |
| esv29947 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 39,359,112 | 39,385,485 |
| esv29947 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 37,689,058 | 37,715,431 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv84186 | copy number loss | WATSON | Oligo aCGH | Probe signal intensity | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv84186 | Remapped | Perfect | NC_000022.11:g.(?_ 38963107)_(3898948 0_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 38,963,107 | 38,989,480 |
| essv84186 | Remapped | Perfect | NC_000022.10:g.(?_ 39359112)_(3938548 5_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 39,359,112 | 39,385,485 |
| essv84186 | Submitted genomic | NC_000022.9:g.(?_3 7689058)_(37715431 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 37,689,058 | 37,715,431 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv84186 | 2 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84186 | 4 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84186 | 3 | WATSON | Sequencing | Read depth | Pass |