A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12280n54



Internal ID22780175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:114433176..114523864hg38UCSC Ensembl
chr8:115445405..115536093hg19UCSC Ensembl
chr8:115514581..115605269hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3890689
hg1990689
hg1890689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611981, nsv611979
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12280n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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