A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693076



Internal ID13683953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18780439..18782437hg38UCSC Ensembl
Innerchr22:18781437..18781439hg38UCSC Ensembl
Outerchr22:18779439..18783437hg38UCSC Ensembl
chr22:18767952..18769950hg19UCSC Ensembl
Innerchr22:18768950..18768952hg19UCSC Ensembl
Outerchr22:18766952..18770950hg19UCSC Ensembl
chr22:17147952..17149950hg18UCSC Ensembl
Innerchr22:17148952..17148950hg18UCSC Ensembl
Outerchr22:17146952..17150950hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432226
Supporting Variants
SamplesNA12878
Known GenesGGT3P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693076
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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