A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7058n100



Internal ID22793145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12376119..12520766hg38UCSC Ensembl
chr8:12233628..12378275hg19UCSC Ensembl
chr8:12277999..12422646hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38144648
hg19144648
hg18144648
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1025612, nsv1020599, nsv1020808, nsv1025487, nsv1033269, nsv1015900, nsv1015206, nsv1029318, nsv1017967, nsv1029674, nsv1023497, nsv1018230, nsv1018294, nsv1030893, nsv1029990, nsv1034796, nsv1018123, nsv1028706, nsv1017532, nsv1026332, nsv1024396
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)dgv7058n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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