A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12047n54



Internal ID20145471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18994964..19000632hg38UCSC Ensembl
chr8:18852474..18858142hg19UCSC Ensembl
chr8:18896754..18902422hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg385669
hg195669
hg185669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610728, nsv610729, nsv610724, nsv610725, nsv610722, nsv610727, nsv610726, nsv610723
Samples
Known GenesPSD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12047n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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