A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12048n54



Internal ID20145472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18994964..19003973hg38UCSC Ensembl
chr8:18852474..18861483hg19UCSC Ensembl
chr8:18896754..18905763hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg389010
hg199010
hg189010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610730, nsv610740
SamplesHGDP00096, HGDP00650
Known GenesPSD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12048n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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