A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693336



Internal ID15116317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47647139..47648237hg38UCSC Ensembl
Innerchr22:47647237..47648139hg38UCSC Ensembl
Outerchr22:47646139..47649237hg38UCSC Ensembl
chr22:48042888..48043986hg19UCSC Ensembl
Innerchr22:48042986..48043888hg19UCSC Ensembl
Outerchr22:48041888..48044986hg19UCSC Ensembl
chr22:46421552..46422650hg18UCSC Ensembl
Innerchr22:46422552..46421650hg18UCSC Ensembl
Outerchr22:46420552..46423650hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3409544
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693336
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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