A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670821



Internal ID9590240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22162681..22245211hg38UCSC Ensembl
Outerchr22:22162644..22245261hg38UCSC Ensembl
Innerchr22:22517074..22599623hg19UCSC Ensembl
Outerchr22:22517037..22599673hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3882618
hg1982637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5834889
SamplesNA18634
Known GenesVPREB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670821
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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