A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5209n100



Internal ID20156825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54237649..54266322hg38UCSC Ensembl
chr4:55103816..55132489hg19UCSC Ensembl
chr4:54798573..54827246hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3828674
hg1928674
hg1828674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011682, nsv997422
Samples
Known GenesPDGFRA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5209n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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