A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161399



Internal ID7906113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21844035..22377218hg38UCSC Ensembl
Innerchr22:22198324..22731587hg19UCSC Ensembl
Innerchr22:20528324..21061587hg18UCSC Ensembl
Innerchr22:20522878..21056141hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38533184
hg19533264
hg18533264
hg17533264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422372
Supporting Variants
SamplesND01674
Known GenesBMS1P20, MAPK1, PPM1F, TOP3B, VPREB1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161399
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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