esv30002
- 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:108,480
- 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: 2029 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2029 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1215 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv30002 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,509,222 | 68,617,701 |
| esv30002 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 69,374,940 | 69,483,419 |
| esv30002 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 69,057,535 | 69,166,014 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv84241 | Remapped | Perfect | NC_000004.12:g.(?_ 68509222)_(6861770 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,509,222 | 68,617,701 |
| essv84241 | Remapped | Perfect | NC_000004.11:g.(?_ 69374940)_(6948341 9_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 69,374,940 | 69,483,419 |
| essv84241 | Submitted genomic | NC_000004.10:g.(?_ 69057535)_(6916601 4_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 69,057,535 | 69,166,014 |