A curated catalogue of human genomic structural variation




Variant Details

Variant: esv30002



Internal ID12954882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509222..68617701hg38UCSC Ensembl
Innerchr4:69374940..69483419hg19UCSC Ensembl
Innerchr4:69057535..69166014hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38108480
hg19108480
hg18108480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv84241
SamplesHuRef
Known GenesUGT2B17
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv30002
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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