A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991701



Internal ID7077490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14953839..14955815hg38UCSC Ensembl
Outerchr4:14955463..14957439hg19UCSC Ensembl
Outerchr4:14564561..14566537hg18UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg384061
hg194061
hg184061
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564599
SamplesHuRef
Known GenesCPEB2-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991701
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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