esv2556331
- 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:34,446
- 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: 1007 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1007 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 645 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 |
---|---|---|---|---|---|---|---|---|---|
esv2556331 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 1,579,504 | 1,613,949 |
esv2556331 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 1,560,150 | 1,594,595 |
esv2556331 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 1,508,150 | 1,542,595 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv5335771 | Remapped | Perfect | NC_000020.11:g.(15 79504_?)_(?_161394 9)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,579,504 | 1,613,949 |
essv5335771 | Remapped | Perfect | NC_000020.10:g.(15 60150_?)_(?_159459 5)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,560,150 | 1,594,595 |
essv5335771 | Submitted genomic | NC_000020.9:g.(150 8150_?)_(?_1542595 )del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,508,150 | 1,542,595 |