esv2504245
- Organism: Homo sapiens
- Study:estd197 (McKernan et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:58,857
- Description:originalFile=Yoruban_cnv.gff
- Publication(s):McKernan 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: 258 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 258 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2504245 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 34,328,907 | 34,387,763 |
| esv2504245 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 34,329,012 | 34,387,868 |
| esv2504245 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 34,364,769 | 34,423,625 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5340046 | Remapped | Perfect | NC_000005.10:g.(?_ 34328907)_(3438776 3_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 34,328,907 | 34,387,763 |
| essv5340046 | Remapped | Perfect | NC_000005.9:g.(?_3 4329012)_(34387868 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 34,329,012 | 34,387,868 |
| essv5340046 | Submitted genomic | NC_000005.8:g.(?_3 4364769)_(34423625 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 34,364,769 | 34,423,625 |