A curated catalogue of human genomic structural variation




Variant Details

Variant: esv33185



Internal ID1684307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:51004619..51013806hg19UCSC Ensembl
Innerchr22:49351485..49360672hg18UCSC Ensembl
Innerchr22:49294763..49303950hg17UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg1914051
hg1814051
hg1714051
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv100861
Samples21656
Known GenesCHKB-CPT1B, CPT1B
Method
Analysis
PlatformAgilent-015366 Custom Human 244K CGH Microarray
Comments
Referencede_Smith_et_al_2007
Pubmed ID17666407
Accession Number(s)esv33185
Frequency
Sample Size51
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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