A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6959n100



Internal ID20158575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7775544..7902059hg38UCSC Ensembl
chr8:7633066..7759581hg19UCSC Ensembl
chr8:7670476..7796991hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38126516
hg19126516
hg18126516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1031468, nsv1018610, nsv1016524, nsv1020884
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6959n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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