A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6972n100



Internal ID20158588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7880901..7969833hg38UCSC Ensembl
chr8:7738423..7827355hg19UCSC Ensembl
chr8:7775833..7864765hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3888933
hg1988933
hg1888933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016039, nsv1017665, nsv1032773, nsv1018886, nsv1022190, nsv1026718
Samples
Known GenesDEFB103A, DEFB103B, DEFB4A, FAM66E, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6972n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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