A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5007n100



Internal ID20156623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191641572..192217259hg38UCSC Ensembl
chr3:191359361..191935048hg19UCSC Ensembl
chr3:192842055..193417742hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38575688
hg19575688
hg18575688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000060, nsv1009378
Samples
Known GenesFGF12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5007n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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