A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5684n100



Internal ID22791771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59895272..59969536hg38UCSC Ensembl
chr5:59191099..59265363hg19UCSC Ensembl
chr5:59226856..59301120hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3874265
hg1974265
hg1874265
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1034311, nsv1018431
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)dgv5684n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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