esv2656250
- 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:4,774
- 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: 554 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 554 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 279 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2656250 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 65,534,492 | 65,539,265 |
| esv2656250 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 63,201,728 | 63,206,501 |
| esv2656250 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 61,352,708 | 61,357,481 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5395267 | copy number gain | 2347 [42] | SNP array | SNP genotyping analysis | 3 | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5395267 | Remapped | Perfect | NC_000018.10:g.(?_ 65534492)_(6553926 5_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 65,534,492 | 65,539,265 |
| essv5395267 | Remapped | Perfect | NC_000018.9:g.(?_6 3201728)_(63206501 _?)dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 63,201,728 | 63,206,501 |
| essv5395267 | Submitted genomic | NC_000018.8:g.(?_6 1352708)_(61357481 _?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 61,352,708 | 61,357,481 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5395267 | 2 | 2347 [42] | Karyotyping | Manual observation | Pass |