A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4745n100



Internal ID22790832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53708121..53736561hg38UCSC Ensembl
chr3:53742148..53770588hg19UCSC Ensembl
chr3:53717188..53745628hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3828441
hg1928441
hg1828441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007655, nsv1000280
Samples
Known GenesCACNA1D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4745n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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