A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3434344



Internal ID15281298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47627939..47629237hg38UCSC Ensembl
Innerchr22:47628237..47628939hg38UCSC Ensembl
Outerchr22:47626939..47630237hg38UCSC Ensembl
chr22:48023688..48024986hg19UCSC Ensembl
Innerchr22:48023986..48024688hg19UCSC Ensembl
Outerchr22:48022688..48025986hg19UCSC Ensembl
chr22:46402352..46403650hg18UCSC Ensembl
Innerchr22:46403352..46402650hg18UCSC Ensembl
Outerchr22:46401352..46404650hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693335
SamplesNA19240
Known GenesLINC00898
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3434344
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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