esv2570625
- 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:14,578
- Description:originalFile=Yoruban_large_indels_8.4x.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: 946 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 946 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 560 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2570625 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 78,337,306 | 78,351,883 |
| esv2570625 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 78,371,203 | 78,385,780 |
| esv2570625 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 76,928,704 | 76,943,281 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5329406 | Remapped | Perfect | NC_000016.10:g.(78 337306_?)_(?_78351 883)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 78,337,306 | 78,351,883 |
| essv5329406 | Remapped | Perfect | NC_000016.9:g.(783 71203_?)_(?_783857 80)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 78,371,203 | 78,385,780 |
| essv5329406 | Submitted genomic | NC_000016.8:g.(769 28704_?)_(?_769432 81)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 76,928,704 | 76,943,281 |