A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4327n100



Internal ID20155943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54028317..54046023hg38UCSC Ensembl
chr20:52644856..52662562hg19UCSC Ensembl
chr20:52078263..52095969hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3817707
hg1917707
hg1817707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059343, nsv1065821
Samples
Known GenesBCAS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4327n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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