A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422480



Internal ID7906577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22219239..22580075hg38UCSC Ensembl
Innerchr22:22573631..22922539hg19UCSC Ensembl
Innerchr22:20903631..21252539hg18UCSC Ensembl
Innerchr22:20898185..21247093hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38360837
hg19348909
hg18348909
hg17348909
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161270
SamplesND03522
Known GenesBMS1P20, LOC648691, PRAME, VPREB1, ZNF280A, ZNF280B
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422480
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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