A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432469



Internal ID15279425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:11368904..11369902hg38UCSC Ensembl
Innerchr20:11368903..11369903hg38UCSC Ensembl
Outerchr20:11367904..11370902hg38UCSC Ensembl
chr20:11349552..11350550hg19UCSC Ensembl
Innerchr20:11349551..11350551hg19UCSC Ensembl
Outerchr20:11348552..11351550hg19UCSC Ensembl
chr20:11297552..11298550hg18UCSC Ensembl
Innerchr20:11298551..11297551hg18UCSC Ensembl
Outerchr20:11296552..11299550hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2399e59
Supporting Variantsessv8692443
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432469
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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