esv2459419
- 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:10,771
- 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: 248 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 248 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2459419 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 3,353,590 | 3,364,360 |
| esv2459419 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 3,256,884 | 3,267,654 |
| esv2459419 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 3,203,634 | 3,214,404 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5245533 | Remapped | Perfect | NC_000017.11:g.(33 53590_?)_(?_336436 0)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 3,353,590 | 3,364,360 |
| essv5245533 | Remapped | Perfect | NC_000017.10:g.(32 56884_?)_(?_326765 4)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 3,256,884 | 3,267,654 |
| essv5245533 | Submitted genomic | NC_000017.9:g.(320 3634_?)_(?_3214404 )del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 3,203,634 | 3,214,404 |