A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5036n100



Internal ID22791123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196792338..196926122hg38UCSC Ensembl
chr3:196519209..196652993hg19UCSC Ensembl
chr3:198003606..198137390hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38133785
hg19133785
hg18133785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001279, nsv1004269, nsv998539
Samples
Known GenesPAK2, SENP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5036n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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