esv2763567
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:41,236
- Publication(s):Vogler et al. 2010
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: 252 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 252 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2763567 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 80,089,979 | 80,131,214 |
| esv2763567 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 80,555,664 | 80,596,899 |
| esv2763567 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 80,328,252 | 80,369,487 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7032267 | copy number gain | SW_1322 | SNP array | SNP genotyping analysis | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7032267 | Remapped | Perfect | NC_000001.11:g.(?_ 80089979)_(8013121 4_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 80,089,979 | 80,131,214 |
| essv7032267 | Remapped | Perfect | NC_000001.10:g.(?_ 80555664)_(8059689 9_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 80,555,664 | 80,596,899 |
| essv7032267 | Submitted genomic | NC_000001.9:g.(?_8 0328252)_(80369487 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 80,328,252 | 80,369,487 |