A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692681



Internal ID15113313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33984981..33985679hg38UCSC Ensembl
Innerchr21:33984980..33985680hg38UCSC Ensembl
Outerchr21:33983981..33986679hg38UCSC Ensembl
chr21:35357282..35357980hg19UCSC Ensembl
Innerchr21:35357281..35357981hg19UCSC Ensembl
Outerchr21:35356282..35358980hg19UCSC Ensembl
chr21:34279152..34279850hg18UCSC Ensembl
Innerchr21:34279851..34279151hg18UCSC Ensembl
Outerchr21:34278152..34280850hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3344751
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692681
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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