esv29956
- 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:1,153,570
- 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: 8670 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 8592 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 5333 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv29956 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 20,344,784 | 21,498,353 |
| esv29956 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 20,550,037 | 22,141,158 |
| esv29956 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 18,810,051 | 19,465,418 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv84195 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv84195 | Remapped | Pass | NC_000015.10:g.(?_ 20344784)_(2149835 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,344,784 | 21,498,353 |
| essv84195 | Remapped | Pass | NC_000015.9:g.(?_2 0550037)_(22141158 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,550,037 | 22,141,158 |
| essv84195 | Submitted genomic | NC_000015.8:g.(?_1 8810051)_(19465418 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,810,051 | 19,465,418 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv84195 | 2 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84195 | 4 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84195 | 3 | WATSON | Sequencing | Read depth | Pass |