A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692718



Internal ID13738412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43335944..43337742hg38UCSC Ensembl
Innerchr21:43336742..43336944hg38UCSC Ensembl
Outerchr21:43334944..43338742hg38UCSC Ensembl
chr21:44755824..44757622hg19UCSC Ensembl
Innerchr21:44756622..44756824hg19UCSC Ensembl
Outerchr21:44754824..44758622hg19UCSC Ensembl
chr21:43580252..43582050hg18UCSC Ensembl
Innerchr21:43581252..43581050hg18UCSC Ensembl
Outerchr21:43579252..43583050hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447074
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692718
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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