esv30001
- Organism: Homo sapiens
- Study:estd22 (Levy et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,809
- Publication(s):Levy 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: 187 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 185 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 20 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv30001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 42,543,879 | 42,560,687 |
| esv30001 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 40,695,897 | 40,712,705 |
| esv30001 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 37,949,423 | 37,966,231 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv84240 | Remapped | Perfect | NC_000017.11:g.(?_ 42543879)_(4256068 7_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 42,543,879 | 42,560,687 |
| essv84240 | Remapped | Perfect | NC_000017.10:g.(?_ 40695897)_(4071270 5_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 40,695,897 | 40,712,705 |
| essv84240 | Submitted genomic | NC_000017.9:g.(?_3 7949423)_(37966231 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 37,949,423 | 37,966,231 |