A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv23e196



Internal ID18981974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21865756..22219239hg38UCSC Ensembl
chr22:22220046..22573631hg19UCSC Ensembl
chr22:20550046..20903631hg18UCSC Ensembl
chr22:20544600..20898185hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38353484
hg19353586
hg18353586
hg17353586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422394, esv2422458
SamplesND03071, ND05067
Known GenesMAPK1, PPM1F, TOP3B
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)dgv23e196
Frequency
Sample Size181
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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