A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402776



Internal ID14903052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2657710..2657723hg38UCSC Ensembl
Innerchr20:2657712..2657721hg38UCSC Ensembl
Outerchr20:2657708..2657725hg38UCSC Ensembl
chr20:2638356..2638369hg19UCSC Ensembl
Innerchr20:2638358..2638367hg19UCSC Ensembl
Outerchr20:2638354..2638371hg19UCSC Ensembl
chr20:2586356..2586369hg18UCSC Ensembl
Innerchr20:2586358..2586367hg18UCSC Ensembl
Outerchr20:2586354..2586371hg18UCSC Ensembl
Cytoband20p13
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 Variantsessv7866132
SamplesNA12005
Known GenesNOP56
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402776
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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