A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3361550



Internal ID15208528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17103862..17104460hg38UCSC Ensembl
Innerchr22:17103861..17104461hg38UCSC Ensembl
Outerchr22:17102862..17105460hg38UCSC Ensembl
chr22:17584752..17585350hg19UCSC Ensembl
Innerchr22:17584751..17585351hg19UCSC Ensembl
Outerchr22:17583752..17586350hg19UCSC Ensembl
chr22:15964752..15965350hg18UCSC Ensembl
Innerchr22:15965351..15964751hg18UCSC Ensembl
Outerchr22:15963752..15966350hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693038
SamplesNA19240
Known GenesIL17RA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3361550
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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