A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331016



Internal ID15178005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:60566272..60566296hg38UCSC Ensembl
Innerchr13:60566274..60566294hg38UCSC Ensembl
Outerchr13:60566270..60566298hg38UCSC Ensembl
chr13:61140406..61140430hg19UCSC Ensembl
Innerchr13:61140408..61140428hg19UCSC Ensembl
Outerchr13:61140404..61140432hg19UCSC Ensembl
chr13:60038407..60038431hg18UCSC Ensembl
Innerchr13:60038409..60038429hg18UCSC Ensembl
Outerchr13:60038405..60038433hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865668, essv7865667
SamplesNA07346, NA18853
Known GenesTDRD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331016
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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