A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672843



Internal ID9592262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19260392..19260579hg38UCSC Ensembl
chr22:19247915..19248102hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5866461, essv5770169, essv5812413, essv6123306, essv5436902, essv6118764, essv5775057, essv5642866, essv6406594, essv6233007
SamplesNA19394, NA19819, NA19379, NA19238, NA19403, NA18853, NA19240, NA19428, NA19360, NA19093
Known GenesCLTCL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672843
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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