A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890750



Internal ID19185052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146209979..146242909hg38UCSC Ensembl
Outerchr5:146208920..146251174hg38UCSC Ensembl
Innerchr5:145589542..145622472hg19UCSC Ensembl
Outerchr5:145588483..145630737hg19UCSC Ensembl
Innerchr5:145569735..145602665hg18UCSC Ensembl
Outerchr5:145568676..145610930hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3842255
hg1942255
hg1842255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787014, essv25787363, essv25786991
Samples
Known GenesRBM27
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890750
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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