A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1523n100



Internal ID20153139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69523935..69598862hg38UCSC Ensembl
chr12:69917715..69992642hg19UCSC Ensembl
chr12:68203982..68278909hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3874928
hg1974928
hg1874928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039513, nsv1036114
Samples
Known GenesCCT2, FRS2, MIR3913-1, MIR3913-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1523n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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