esv2656343
- 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:2,117
- 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: 608 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 608 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 350 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2656343 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 66,099,714 | 66,101,830 |
| esv2656343 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 63,766,950 | 63,769,066 |
| esv2656343 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 61,917,930 | 61,920,046 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5395159 | copy number gain | 2243 [60] | SNP array | SNP genotyping analysis | 3 | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5395159 | Remapped | Perfect | NC_000018.10:g.(?_ 66099714)_(6610183 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 66,099,714 | 66,101,830 |
| essv5395159 | Remapped | Perfect | NC_000018.9:g.(?_6 3766950)_(63769066 _?)dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 63,766,950 | 63,769,066 |
| essv5395159 | Submitted genomic | NC_000018.8:g.(?_6 1917930)_(61920046 _?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 61,917,930 | 61,920,046 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5395159 | 2 | 2243 [60] | Karyotyping | Manual observation | Pass |