A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5683n100



Internal ID22791770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59377954..59490642hg38UCSC Ensembl
chr5:58673780..58786468hg19UCSC Ensembl
chr5:58709537..58822225hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38112689
hg19112689
hg18112689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1028022, nsv1034656
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)dgv5683n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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