esv29942
- 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:104,608
- 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: 1745 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1745 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1200 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 |
---|---|---|---|---|---|---|---|---|---|
esv29942 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 162,796,746 | 162,901,353 |
esv29942 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 162,514,534 | 162,619,141 |
esv29942 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 163,997,228 | 164,101,835 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv84181 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv84181 | Remapped | Perfect | NC_000003.12:g.(?_ 162796746)_(162901 353_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 162,796,746 | 162,901,353 |
essv84181 | Remapped | Perfect | NC_000003.11:g.(?_ 162514534)_(162619 141_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 162,514,534 | 162,619,141 |
essv84181 | Submitted genomic | NC_000003.10:g.(?_ 163997228)_(164101 835_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 163,997,228 | 164,101,835 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv84181 | 2 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
essv84181 | 4 | WATSON | Oligo aCGH | Probe signal intensity | Pass |
essv84181 | 3 | WATSON | Sequencing | Read depth | Fail |