A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693137



Internal ID13684817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20333429..20334327hg38UCSC Ensembl
Innerchr22:20333428..20334328hg38UCSC Ensembl
Outerchr22:20332429..20335327hg38UCSC Ensembl
chr22:20320952..20321850hg19UCSC Ensembl
Innerchr22:20320951..20321851hg19UCSC Ensembl
Outerchr22:20319952..20322850hg19UCSC Ensembl
chr22:18700952..18701850hg18UCSC Ensembl
Innerchr22:18701851..18700951hg18UCSC Ensembl
Outerchr22:18699952..18702850hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364641
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693137
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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