A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989960



Internal ID6725928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:185162624..185164329hg38UCSC Ensembl
Outerchr4:186083778..186085483hg19UCSC Ensembl
Outerchr4:186320772..186322477hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385764
hg195764
hg185764
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563578
SamplesHuRef
Known GenesKIAA1430
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989960
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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