esv2575711
- 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:13,216
- 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: 230 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 230 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2575711 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,172,193 | 34,185,408 |
| esv2575711 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 34,173,815 | 34,187,030 |
| esv2575711 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 33,850,210 | 33,863,425 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5196350 | Remapped | Perfect | NC_000004.12:g.(34 172193_?)_(?_34185 408)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,172,193 | 34,185,408 |
| essv5196350 | Remapped | Perfect | NC_000004.11:g.(34 173815_?)_(?_34187 030)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 34,173,815 | 34,187,030 |
| essv5196350 | Submitted genomic | NC_000004.10:g.(33 850210_?)_(?_33863 425)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 33,850,210 | 33,863,425 |