A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7053n100



Internal ID22793140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12374760..12564499hg38UCSC Ensembl
chr8:12232269..12422008hg19UCSC Ensembl
chr8:12276640..12466379hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38189740
hg19189740
hg18189740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016893, nsv1019339, nsv1032150, nsv1028864, nsv1028538, nsv1035123, nsv1026073, nsv1030439, nsv1019116, nsv1029226, nsv1027431, nsv1030371, nsv1033567, nsv1025297, nsv1030816, nsv1030018, nsv1032538, nsv1018562, nsv1026026
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7053n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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