esv29939
- 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:41,243
- 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: 1088 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1088 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 567 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv29939 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 14,954,819 | 14,996,061 |
| esv29939 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 15,048,676 | 15,089,918 |
| esv29939 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 14,956,177 | 14,997,419 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv84178 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv84178 | Remapped | Perfect | NC_000016.10:g.(?_ 14954819)_(1499606 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 14,954,819 | 14,996,061 |
| essv84178 | Remapped | Perfect | NC_000016.9:g.(?_1 5048676)_(15089918 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,048,676 | 15,089,918 |
| essv84178 | Submitted genomic | NC_000016.8:g.(?_1 4956177)_(14997419 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 14,956,177 | 14,997,419 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv84178 | 2 | WATSON | Oligo aCGH | Probe signal intensity | Fail |
| essv84178 | 4 | WATSON | Oligo aCGH | Probe signal intensity | Fail |
| essv84178 | 3 | WATSON | Sequencing | Read depth | Pass |