A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4686n100



Internal ID20156302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12587682..12770129hg38UCSC Ensembl
chr3:12629181..12811628hg19UCSC Ensembl
chr3:12604181..12786628hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38182448
hg19182448
hg18182448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998075, nsv1011240, nsv1006470
Samples
Known GenesRAF1, TMEM40
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4686n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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