A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326161



Internal ID14826441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45500253..45501456hg38UCSC Ensembl
Innerchr21:45500253..45501456hg38UCSC Ensembl
Outerchr21:45500232..45501819hg38UCSC Ensembl
chr21:46920167..46921370hg19UCSC Ensembl
Innerchr21:46920167..46921370hg19UCSC Ensembl
Outerchr21:46920146..46921733hg19UCSC Ensembl
chr21:45744595..45745798hg18UCSC Ensembl
Innerchr21:45744595..45745798hg18UCSC Ensembl
Outerchr21:45744574..45746161hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381204
hg191204
hg181204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652147
SamplesNA19240
Known GenesCOL18A1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326161
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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