A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645475



Internal ID7032225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:20191780..20360243hg38UCSC Ensembl
Innerchr20:20191930..20360093hg38UCSC Ensembl
Outerchr20:20191630..20360393hg38UCSC Ensembl
chr20:20172424..20340887hg19UCSC Ensembl
Innerchr20:20172574..20340737hg19UCSC Ensembl
Outerchr20:20172274..20341037hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38168464
hg19168464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16155638, essv16155639
SamplesHG01605, NA19454
Known GenesC20orf26
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645475
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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