A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3055n100



Internal ID19013423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83624855..83648201hg38UCSC Ensembl
chr16:83658460..83681806hg19UCSC Ensembl
chr16:82215961..82239307hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3823347
hg1923347
hg1823347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058689, nsv1055821
Samples
Known GenesCDH13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3055n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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