A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305313



Internal ID15152261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60063062..60063063hg38UCSC Ensembl
Innerchr20:60063026..60063099hg38UCSC Ensembl
Outerchr20:60063025..60063100hg38UCSC Ensembl
chr20:58638117..58638118hg19UCSC Ensembl
Innerchr20:58638081..58638154hg19UCSC Ensembl
Outerchr20:58638080..58638155hg19UCSC Ensembl
chr20:58071512..58071513hg18UCSC Ensembl
Innerchr20:58071549..58071476hg18UCSC Ensembl
Outerchr20:58071475..58071550hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7762270, essv7744867, essv7743260, essv7751480
SamplesNA18507, NA19190, NA18489, NA18916
Known GenesC20orf197
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305313
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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