A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561797



Internal ID18762873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:42796885..42799315hg38UCSC Ensembl
Outerchr3:42796820..42799349hg38UCSC Ensembl
Innerchr3:42838377..42840807hg19UCSC Ensembl
Outerchr3:42838312..42840841hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382530
hg192530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760544
Samples
Known GenesHIGD1A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561797
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer