A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11918n54



Internal ID20145342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7413396..7497822hg38UCSC Ensembl
chr8:7270918..7355344hg19UCSC Ensembl
chr8:7258328..7342754hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3884427
hg1984427
hg1884427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610063, nsv610064, nsv610070, nsv610074, nsv610069
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11918n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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