A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678421



Internal ID4722755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33767864..33769717hg19UCSC Ensembl
Outerchr22:33767707..33769870hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv6149025
SamplesHG00268
Known GenesLARGE
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678421
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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