A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384174



Internal ID15231144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32013241..32013247hg38UCSC Ensembl
Innerchr21:32013233..32013253hg38UCSC Ensembl
Outerchr21:32013229..32013259hg38UCSC Ensembl
chr21:33385554..33385560hg19UCSC Ensembl
Innerchr21:33385546..33385566hg19UCSC Ensembl
Outerchr21:33385542..33385572hg19UCSC Ensembl
chr21:32307425..32307431hg18UCSC Ensembl
Innerchr21:32307437..32307417hg18UCSC Ensembl
Outerchr21:32307413..32307443hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674328, essv8674329
SamplesNA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384174
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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