A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988470



Internal ID7075741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178582902..178586430hg38UCSC Ensembl
Outerchr5:178009903..178013431hg19UCSC Ensembl
Outerchr5:177942509..177946037hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389794
hg199794
hg189794
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565083
SamplesHuRef
Known GenesCOL23A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988470
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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