A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11916n54



Internal ID20145340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7385193..7598872hg38UCSC Ensembl
chr8:7242715..7456394hg19UCSC Ensembl
chr8:7230125..7443804hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38213680
hg19213680
hg18213680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610049, nsv610060, nsv610072
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A7P, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11916n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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