esv2484984
- 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:15,675
- 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: 952 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 952 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 562 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2484984 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 78,335,477 | 78,351,151 |
| esv2484984 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 78,369,374 | 78,385,048 |
| esv2484984 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 76,926,875 | 76,942,549 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5243657 | Remapped | Perfect | NC_000016.10:g.(?_ 78335477)_(7835115 1_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,335,477 | 78,351,151 |
| essv5243657 | Remapped | Perfect | NC_000016.9:g.(?_7 8369374)_(78385048 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,369,374 | 78,385,048 |
| essv5243657 | Submitted genomic | NC_000016.8:g.(?_7 6926875)_(76942549 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 76,926,875 | 76,942,549 |