A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675430



Internal ID9941535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37041367..37047475hg38UCSC Ensembl
chr22:37437407..37443515hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg386109
hg196109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5954294
SamplesNA20760
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675430
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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