A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789421



Internal ID19174898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69188963..69305562hg38UCSC Ensembl
Innerchr4:70054681..70171280hg19UCSC Ensembl
Innerchr4:70089270..70205869hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38116600
hg19116600
hg18116600
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893950
Supporting Variants
Samples
Known GenesUGT2B11, UGT2B28
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789421
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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