esv19829
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:621
- Publication(s):Conrad et al. 2009
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: 135 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv19829 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 99,949,646 | 99,950,266 |
| esv19829 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 100,870,803 | 100,871,423 |
| esv19829 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 101,089,826 | 101,090,446 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv64420 | Remapped | Perfect | NC_000004.12:g.(?_ 99949646)_(9995026 6_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 99,949,646 | 99,950,266 |
| essv64420 | Remapped | Perfect | NC_000004.11:g.(?_ 100870803)_(100871 423_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 100,870,803 | 100,871,423 |
| essv64420 | Submitted genomic | NC_000004.10:g.(?_ 101089826)_(101090 446_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 101,089,826 | 101,090,446 |