esv30004
- 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:40,271
- 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: 298 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 298 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv30004 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 82,774,334 | 82,814,604 |
| esv30004 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 83,168,113 | 83,208,383 |
| esv30004 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 81,692,244 | 81,732,514 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv84243 | Remapped | Perfect | NC_000012.12:g.(?_ 82774334)_(8281460 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 82,774,334 | 82,814,604 |
| essv84243 | Remapped | Perfect | NC_000012.11:g.(?_ 83168113)_(8320838 3_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 83,168,113 | 83,208,383 |
| essv84243 | Submitted genomic | NC_000012.10:g.(?_ 81692244)_(8173251 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 81,692,244 | 81,732,514 |