A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11912n54



Internal ID20145336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7338677..7598872hg38UCSC Ensembl
chr8:7196199..7456394hg19UCSC Ensembl
chr8:7183609..7443804hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38260196
hg19260196
hg18260196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610038, nsv610045, nsv610037
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM66B, FAM90A7P, PRR23D1, PRR23D2, SPAG11B, USP17L4, ZNF705G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11912n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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