A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669936



Internal ID9589355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47004640..47004760hg38UCSC Ensembl
chr22:47400536..47400656hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6358511, essv5743937, essv5715691, essv6148536
SamplesHG01173, HG01051, NA19147, NA19360
Known GenesTBC1D22A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669936
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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