A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422458



Internal ID7906555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21942127..22219239hg38UCSC Ensembl
Innerchr22:22296499..22573631hg19UCSC Ensembl
Innerchr22:20626499..20903631hg18UCSC Ensembl
Innerchr22:20621053..20898185hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38277113
hg19277133
hg18277133
hg17277133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv23e196
Supporting Variantsessv5161494
SamplesND05067
Known GenesPPM1F, TOP3B
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422458
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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