A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994920



Internal ID7079455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:90154481..90156276hg38UCSC Ensembl
Outerchr5:89450298..89452093hg19UCSC Ensembl
Outerchr5:89486054..89487849hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg385568
hg195568
hg185568
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563929
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994920
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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