A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797274



Internal ID19179523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132767579..132823442hg38UCSC Ensembl
Innerchr5:132103271..132159134hg19UCSC Ensembl
Innerchr5:132131170..132187033hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3855864
hg1955864
hg1855864
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890740
Supporting Variants
Samples
Known GenesSEPT8, SHROOM1, SOWAHA
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797274
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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