A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417671



Internal ID14917943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45224531..45224734hg38UCSC Ensembl
Innerchr21:45224531..45224734hg38UCSC Ensembl
Outerchr21:45224434..45225185hg38UCSC Ensembl
chr21:46644446..46644649hg19UCSC Ensembl
Innerchr21:46644446..46644649hg19UCSC Ensembl
Outerchr21:46644349..46645100hg19UCSC Ensembl
chr21:45468874..45469077hg18UCSC Ensembl
Innerchr21:45468874..45469077hg18UCSC Ensembl
Outerchr21:45468777..45469528hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38204
hg19204
hg18204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652145
SamplesNA19240
Known GenesADARB1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417671
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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