esv30000
- 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:8,856
- 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: 390 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 390 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 191 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv30000 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 113,031,340 | 113,040,195 |
| esv30000 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 113,685,654 | 113,694,509 |
| esv30000 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 112,733,655 | 112,742,510 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv84239 | Remapped | Perfect | NC_000013.11:g.(?_ 113031340)_(113040 195_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,031,340 | 113,040,195 |
| essv84239 | Remapped | Perfect | NC_000013.10:g.(?_ 113685654)_(113694 509_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 113,685,654 | 113,694,509 |
| essv84239 | Submitted genomic | NC_000013.9:g.(?_1 12733655)_(1127425 10_?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 112,733,655 | 112,742,510 |