A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3328n100



Internal ID20154944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31385807..31473928hg38UCSC Ensembl
chr18:28965770..29053891hg19UCSC Ensembl
chr18:27219768..27307889hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3888122
hg1988122
hg1888122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059676, nsv1060592, nsv1062970, nsv1065570, nsv1056726, nsv1065809, nsv1058214
Samples
Known GenesDSG3, DSG4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3328n100
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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