A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674329



Internal ID15073011
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 StatusS
Merged Variantsesv3384174
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674329
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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