A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12114n54



Internal ID22780009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40324113..40333357hg38UCSC Ensembl
chr8:40181632..40190876hg19UCSC Ensembl
chr8:40300789..40310033hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg389245
hg199245
hg189245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611099, nsv611097, nsv611096, nsv611098, nsv611100
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12114n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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