A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787363



Internal ID19175837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146208920..146251174hg38UCSC Ensembl
Innerchr5:145588483..145630737hg19UCSC Ensembl
Innerchr5:145568676..145610930hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3842255
hg1942255
hg1842255
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890750
Supporting Variants
Samples
Known GenesRBM27
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787363
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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