A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678585



Internal ID9944690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21715659..21715841hg38UCSC Ensembl
chr22:22069948..22070130hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6305016, essv5450952, essv6365890, essv6432455, essv6550877, essv5612551, essv6234279, essv6373802, essv6588604, essv6323727, essv5989780, essv6132990, essv6230385, essv5479279, essv6329841, essv5749275, essv5789906, essv6196279, essv6483621, essv5714591, essv5623695, essv5980934, essv6338631, essv5599251, essv6527619, essv5611815, essv6530943, essv6404309, essv6192049, essv5543082, essv6589580, essv6179065, essv6518558, essv5678335, essv6130498, essv6022617, essv6343942, essv6455141, essv5506573, essv5541344, essv6450129, essv6455547, essv6391788, essv6108862, essv5944353, essv6123672, essv6172146, essv6526278, essv6074551, essv5410793, essv6040532, essv6066129, essv5762660, essv5873146, essv6006284, essv5870602, essv5423543, essv5909248, essv5668123
SamplesNA11830, HG01173, HG00249, HG01052, HG01188, HG01389, HG01374, HG01066, HG00315, NA12004, HG01518, NA07357, HG00327, HG00271, NA19746, HG00138, HG01366, HG01351, HG00330, NA11918, HG00346, HG01083, HG00139, HG01080, HG01072, HG00309, HG00326, HG00108, HG00137, HG00154, HG00268, HG00328, NA12003, HG00275, HG01047, HG00324, HG01073, NA11919, NA12829, HG01383, NA19750, HG01101, HG00276, NA18576, HG00254, HG00336, HG00136, HG00278, HG01174, HG01375, NA20504, NA20544, HG00111, NA12830, NA20289, HG00280, NA11843, HG00343, HG00252
Known GenesYPEL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678585
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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