A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893946



Internal ID19184800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68568777..68678520hg38UCSC Ensembl
Outerchr4:68539099..68709989hg38UCSC Ensembl
Innerchr4:69434495..69544238hg19UCSC Ensembl
Outerchr4:69404817..69575707hg19UCSC Ensembl
Innerchr4:69117090..69226833hg18UCSC Ensembl
Outerchr4:69087412..69258302hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38170891
hg19170891
hg18170891
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790712, essv25780922, essv25782554
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893946
Frequency
Sample Size3017
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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