A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693035



Internal ID13713567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17014162..17021960hg38UCSC Ensembl
Innerchr22:17015162..17020960hg38UCSC Ensembl
Outerchr22:17013162..17022960hg38UCSC Ensembl
chr22:17495052..17502850hg19UCSC Ensembl
Innerchr22:17496052..17501850hg19UCSC Ensembl
Outerchr22:17494052..17503850hg19UCSC Ensembl
chr22:15875052..15882850hg18UCSC Ensembl
Innerchr22:15876052..15881850hg18UCSC Ensembl
Outerchr22:15874052..15883850hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg387799
hg197799
hg187799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3355772
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693035
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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