esv29946
- 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:37,205
- 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: 927 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 927 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 193 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv29946 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 38,275,639 | 38,312,843 |
| esv29946 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 38,315,240 | 38,352,444 |
| esv29946 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 38,281,765 | 38,318,969 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv84185 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv84185 | Remapped | Perfect | NC_000007.14:g.(?_ 38275639)_(3831284 3_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 38,275,639 | 38,312,843 |
| essv84185 | Remapped | Perfect | NC_000007.13:g.(?_ 38315240)_(3835244 4_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 38,315,240 | 38,352,444 |
| essv84185 | Submitted genomic | NC_000007.12:g.(?_ 38281765)_(3831896 9_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 38,281,765 | 38,318,969 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv84185 | 4 | WATSON | Oligo aCGH | Probe signal intensity | Fail |
| essv84185 | 2 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
| essv84185 | 3 | WATSON | Sequencing | Read depth | Pass |