A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3392625



Internal ID15239590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62087201..62088499hg38UCSC Ensembl
Innerchr20:62087499..62088201hg38UCSC Ensembl
Outerchr20:62086201..62089499hg38UCSC Ensembl
chr20:60662257..60663555hg19UCSC Ensembl
Innerchr20:60662555..60663257hg19UCSC Ensembl
Outerchr20:60661257..60664555hg19UCSC Ensembl
chr20:60095652..60096950hg18UCSC Ensembl
Innerchr20:60096652..60095950hg18UCSC Ensembl
Outerchr20:60094652..60097950hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692600
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3392625
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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