esv2656239
- Organism: Homo sapiens
- Study:estd198 (Chia et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:9,029
- Publication(s):Chia et al. 2013
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: 414 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 414 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 226 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2656239 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 50,162,870 | 50,171,898 |
| esv2656239 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 47,689,240 | 47,698,268 |
| esv2656239 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 45,943,238 | 45,952,266 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5395422 | copy number loss | 2338 [34] | SNP array | SNP genotyping analysis | 0 | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5395422 | Remapped | Perfect | NC_000018.10:g.(?_ 50162870)_(5017189 8_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 50,162,870 | 50,171,898 |
| essv5395422 | Remapped | Perfect | NC_000018.9:g.(?_4 7689240)_(47698268 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 47,689,240 | 47,698,268 |
| essv5395422 | Submitted genomic | NC_000018.8:g.(?_4 5943238)_(45952266 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 45,943,238 | 45,952,266 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5395422 | 2 | 2338 [34] | Karyotyping | Manual observation | Pass |