esv32811
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:164,644
- Publication(s):de Smith et al. 2007
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: 1317 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1317 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 217 SVs from 12 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 |
---|---|---|---|---|---|---|---|---|---|
esv32811 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,673,269 | 136,837,912 |
esv32811 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 137,685,512 | 137,850,155 |
esv32811 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 137,754,694 | 137,919,337 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv92667 | copy number loss | 21944 | Oligo aCGH | Probe signal intensity | 167 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv92667 | Remapped | Perfect | NC_000008.11:g.(13 6667806_136673269) _(136837912_136850 287)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,667,806 | 136,673,269 | 136,837,912 | 136,850,287 |
essv92667 | Remapped | Perfect | NC_000008.10:g.(13 7680049_137685512) _(137850155_137862 530)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,680,049 | 137,685,512 | 137,850,155 | 137,862,530 |
essv92667 | Submitted genomic | NC_000008.9:g.(137 749231_137754694)_ (137919337_1379317 12)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 137,749,231 | 137,754,694 | 137,919,337 | 137,931,712 |