A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448498



Internal ID15295447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10586678..10742376hg38UCSC Ensembl
Innerchr21:10587678..10741376hg38UCSC Ensembl
Outerchr21:10585678..10743376hg38UCSC Ensembl
chr21:10770081..10925779hg19UCSC Ensembl
Innerchr21:10771081..10924779hg19UCSC Ensembl
Outerchr21:10769081..10926779hg19UCSC Ensembl
chr21:9791952..9947650hg18UCSC Ensembl
Innerchr21:9792952..9946650hg18UCSC Ensembl
Outerchr21:9790952..9948650hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38155699
hg19155699
hg18155699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692770
SamplesNA19238
Known GenesTPTE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448498
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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