A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323904



Internal ID15170879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68195339..68197337hg38UCSC Ensembl
Innerchr4:68196337..68196339hg38UCSC Ensembl
Outerchr4:68194339..68198337hg38UCSC Ensembl
chr4:69061057..69063055hg19UCSC Ensembl
Innerchr4:69062055..69062057hg19UCSC Ensembl
Outerchr4:69060057..69064055hg19UCSC Ensembl
chr4:68743652..68745650hg18UCSC Ensembl
Innerchr4:68744652..68744650hg18UCSC Ensembl
Outerchr4:68742652..68746650hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694480
SamplesNA19238
Known GenesFTLP10, TMPRSS11BNL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323904
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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