A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997164



Internal ID6733106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:98893686..98895795hg38UCSC Ensembl
Outerchr4:99814837..99816946hg19UCSC Ensembl
Outerchr4:100033860..100035969hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg383064
hg193064
hg183064
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565768
SamplesHuRef
Known GenesEIF4E
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997164
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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