A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5682n100



Internal ID22791769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59341353..59393184hg38UCSC Ensembl
chr5:58637179..58689010hg19UCSC Ensembl
chr5:58672936..58724767hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3851832
hg1951832
hg1851832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1022160, nsv1032732
Samples
Known GenesPDE4D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5682n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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