A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667871



Internal ID9933976
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6248291, essv5432335, essv6198169, essv6176601
SamplesNA12286, NA12348, NA06984, NA20787
Known GenesPPARA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667871
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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