A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7047n100



Internal ID22793134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12374760..12454117hg38UCSC Ensembl
chr8:12232269..12311626hg19UCSC Ensembl
chr8:12276640..12355997hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3879358
hg1979358
hg1879358
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1028962, nsv1022826, nsv1020355, nsv1032067, nsv1033554, nsv1024821, nsv1030220, nsv1020495
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7047n100
Frequency
Sample Size11257
Observed Gain47
Observed Loss53
Observed Complex0
Frequencyn/a


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