A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560820



Internal ID18761896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201282009..201284585hg38UCSC Ensembl
Outerchr2:201281890..201284807hg38UCSC Ensembl
Innerchr2:202146732..202149308hg19UCSC Ensembl
Outerchr2:202146613..202149530hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382918
hg192918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759567
Samples
Known GenesCASP8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560820
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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