A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009435



Internal ID7059364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134439435..134442113hg38UCSC Ensembl
Outerchr5:133775126..133777804hg19UCSC Ensembl
Outerchr5:133803025..133805703hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382402
hg192402
hg182402
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564561
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009435
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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