A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009373



Internal ID6721478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138404536..138405268hg38UCSC Ensembl
Outerchr5:137740225..137740957hg19UCSC Ensembl
Outerchr5:137768124..137768856hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg388147
hg198147
hg188147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565273
SamplesHuRef
Known GenesKDM3B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009373
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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