A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6931n100



Internal ID20158547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7392846..7514711hg38UCSC Ensembl
chr8:7250368..7372233hg19UCSC Ensembl
chr8:7237778..7359643hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38121866
hg19121866
hg18121866
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1029262, nsv1015457, nsv1031552
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6931n100
Frequency
Sample Size29084
Observed Gain8
Observed Loss12
Observed Complex0
Frequencyn/a


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