esv2647558
- 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:33,512
- 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: 777 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 819 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 334 SVs from 23 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 |
---|---|---|---|---|---|---|---|---|---|
esv2647558 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 3,570,751 | 3,604,262 |
esv2647558 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 3,572,478 | 3,605,989 |
esv2647558 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 3,542,276 | 3,575,787 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv5171997 | Remapped | Perfect | NC_000004.12:g.(?_ 3570751)_(3604262_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 3,570,751 | 3,604,262 |
essv5171997 | Remapped | Perfect | NC_000004.11:g.(?_ 3572478)_(3605989_ ?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 3,572,478 | 3,605,989 |
essv5171997 | Submitted genomic | NC_000004.10:g.(?_ 3542276)_(3575787_ ?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 3,542,276 | 3,575,787 |