A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893944



Internal ID19184798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68528033..68568777hg38UCSC Ensembl
Outerchr4:68497359..68585585hg38UCSC Ensembl
Innerchr4:69393751..69434495hg19UCSC Ensembl
Outerchr4:69363077..69451303hg19UCSC Ensembl
Innerchr4:69076346..69117090hg18UCSC Ensembl
Outerchr4:69045672..69133898hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3888227
hg1988227
hg1888227
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788667, essv25780030, essv25780022, essv25789537, essv25789583, essv25792571, essv25789077, essv25780575
Samples
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893944
Frequency
Sample Size3017
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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