A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343614



Internal ID14843882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45517515..45517610hg38UCSC Ensembl
Innerchr13:45517556..45517569hg38UCSC Ensembl
Outerchr13:45517474..45517651hg38UCSC Ensembl
chr13:46091650..46091745hg19UCSC Ensembl
Innerchr13:46091691..46091704hg19UCSC Ensembl
Outerchr13:46091609..46091786hg19UCSC Ensembl
chr13:44989651..44989746hg18UCSC Ensembl
Innerchr13:44989692..44989705hg18UCSC Ensembl
Outerchr13:44989610..44989787hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38274
hg19274
hg18274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8960260, essv8960262, essv8960261
SamplesNA19129, NA19225, NA18853
Known GenesCOG3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343614
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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