A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780030



Internal ID19170233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68528033..68568777hg38UCSC Ensembl
Innerchr4:69393751..69434495hg19UCSC Ensembl
Innerchr4:69076346..69117090hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3840745
hg1940745
hg1840745
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893944
Supporting Variants
Samples
Known GenesUGT2B17
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=9
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780030
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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