A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3452097



Internal ID15299042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10744678..10814560hg38UCSC Ensembl
Innerchr21:10745678..10813576hg38UCSC Ensembl
Outerchr21:10743678..10814560hg38UCSC Ensembl
chr21:10697897..10767779hg19UCSC Ensembl
Innerchr21:10698881..10766779hg19UCSC Ensembl
Outerchr21:10697897..10768779hg19UCSC Ensembl
chr21:9719752..9789650hg18UCSC Ensembl
Innerchr21:9720752..9788650hg18UCSC Ensembl
Outerchr21:9718752..9790650hg18UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3869883
hg1969883
hg1869899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2456e59
Supporting Variantsessv8692766
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3452097
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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