A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693301



Internal ID15116137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35600759..35602357hg38UCSC Ensembl
Innerchr22:35601357..35601759hg38UCSC Ensembl
Outerchr22:35599759..35603357hg38UCSC Ensembl
chr22:35996806..35998404hg19UCSC Ensembl
Innerchr22:35997404..35997806hg19UCSC Ensembl
Outerchr22:35995806..35999404hg19UCSC Ensembl
chr22:34326752..34328350hg18UCSC Ensembl
Innerchr22:34327752..34327350hg18UCSC Ensembl
Outerchr22:34325752..34329350hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3382929
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693301
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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