A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5038n100



Internal ID20156654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197134594..197659420hg38UCSC Ensembl
chr3:196861465..197386291hg19UCSC Ensembl
chr3:198345862..198870688hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38524827
hg19524827
hg18524827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003716, nsv998525
Samples
Known GenesBDH1, DLG1, DLG1-AS1, LOC220729, MIR4797
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5038n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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