A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3427358



Internal ID15274314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43325861..43326233hg38UCSC Ensembl
Innerchr20:43325873..43326219hg38UCSC Ensembl
Outerchr20:43325847..43326245hg38UCSC Ensembl
chr20:41954501..41954873hg19UCSC Ensembl
Innerchr20:41954513..41954859hg19UCSC Ensembl
Outerchr20:41954487..41954885hg19UCSC Ensembl
chr20:41387915..41388287hg18UCSC Ensembl
Innerchr20:41387927..41388273hg18UCSC Ensembl
Outerchr20:41387901..41388299hg18UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg38373
hg19373
hg18373
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2432e59
Supporting Variantsessv8670947, essv8670946, essv8670945
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3427358
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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