A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894192



Internal ID18838575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:57175963..57204599hg38UCSC Ensembl
Outerchr5:57175963..57204599hg38UCSC Ensembl
Innerchr5:56471790..56500426hg19UCSC Ensembl
Outerchr5:56471790..56500426hg19UCSC Ensembl
Innerchr5:56507547..56536183hg18UCSC Ensembl
Outerchr5:56507547..56536183hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3828637
hg1928637
hg1828637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797161
Samples
Known GenesGPBP1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894192
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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