A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789537



Internal ID19178038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68497359..68568777hg38UCSC Ensembl
Innerchr4:69363077..69434495hg19UCSC Ensembl
Innerchr4:69045672..69117090hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3871419
hg1971419
hg1871419
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893944
Supporting Variants
Samples
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789537
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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