A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302733



Internal ID15149681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33032469..33042056hg38UCSC Ensembl
Innerchr21:33032569..33041956hg38UCSC Ensembl
Outerchr21:33032369..33042156hg38UCSC Ensembl
chr21:34404777..34414364hg19UCSC Ensembl
Innerchr21:34404877..34414264hg19UCSC Ensembl
Outerchr21:34404677..34414464hg19UCSC Ensembl
chr21:33326647..33336234hg18UCSC Ensembl
Innerchr21:33326747..33336134hg18UCSC Ensembl
Outerchr21:33326547..33336334hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg389588
hg199588
hg189588
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7732943
SamplesNA18563
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302733
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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