A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3271n100



Internal ID19013639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59112106..59291909hg38UCSC Ensembl
chr17:57189467..57369270hg19UCSC Ensembl
chr17:54544249..54724052hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38179804
hg19179804
hg18179804
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060807, nsv1064115
Samples
Known GenesGDPD1, MIR301A, MIR454, PRR11, SKA2, SMG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3271n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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