A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9888n54



Internal ID20143312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77210281..77211470hg38UCSC Ensembl
chr5:76506106..76507295hg19UCSC Ensembl
chr5:76541862..76543051hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381190
hg191190
hg181190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598698, nsv598696, nsv598697
Samples
Known GenesPDE8B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9888n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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