A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446082



Internal ID14946346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42129806..42136897hg38UCSC Ensembl
Innerchr22:42130806..42135897hg38UCSC Ensembl
Outerchr22:42128806..42137897hg38UCSC Ensembl
chr22:42525808..42532906hg19UCSC Ensembl
Innerchr22:42526808..42531906hg19UCSC Ensembl
Outerchr22:42524808..42533906hg19UCSC Ensembl
chr22:40855752..40862850hg18UCSC Ensembl
Innerchr22:40856752..40861850hg18UCSC Ensembl
Outerchr22:40854752..40863850hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg387092
hg197099
hg187099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693307
SamplesNA12891
Known GenesCYP2D6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446082
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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