A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3251162



Internal ID10924142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68514282..68624282hg38UCSC Ensembl
Innerchr4:69380000..69490000hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38110001
hg19110001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7520729
SamplesHuRef
Known GenesUGT2B17
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3251162
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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