A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5432335



Internal ID9268784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46168086..46170895hg38UCSC Ensembl
chr22:46563985..46566794hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382810
hg192810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667871
Supporting Variants
SamplesNA12348
Known GenesPPARA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5432335
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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