A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890740



Internal ID18838356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132767579..132823442hg38UCSC Ensembl
Outerchr5:132767579..132823442hg38UCSC Ensembl
Innerchr5:132103271..132159134hg19UCSC Ensembl
Outerchr5:132103271..132159134hg19UCSC Ensembl
Innerchr5:132131170..132187033hg18UCSC Ensembl
Outerchr5:132131170..132187033hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3855864
hg1955864
hg1855864
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797274
Samples
Known GenesSEPT8, SHROOM1, SOWAHA
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890740
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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