A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12279n54



Internal ID22780174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:114433176..114498541hg38UCSC Ensembl
chr8:115445405..115510770hg19UCSC Ensembl
chr8:115514581..115579946hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3865366
hg1965366
hg1865366
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611980, nsv611978
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12279n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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