A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3416390



Internal ID14916663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42950422..42950422hg38UCSC Ensembl
Innerchr22:42950421..42950423hg38UCSC Ensembl
Outerchr22:42950362..42950472hg38UCSC Ensembl
chr22:43346428..43346428hg19UCSC Ensembl
Innerchr22:43346427..43346429hg19UCSC Ensembl
Outerchr22:43346368..43346478hg19UCSC Ensembl
chr22:41676372..41676372hg18UCSC Ensembl
Innerchr22:41676373..41676371hg18UCSC Ensembl
Outerchr22:41676312..41676422hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8827101
SamplesNA12878
Known GenesPACSIN2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3416390
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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