A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758322



Internal ID9980399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132908635..133120380hg38UCSC Ensembl
Innerchr12:133485221..133696966hg19UCSC Ensembl
Innerchr12:131995294..132207039hg18UCSC Ensembl
Innerchr12:132095571..132307316hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38211746
hg19211746
hg18211746
hg17211746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759923
Supporting Variantsessv10741
SamplesNA18523
Known GenesZNF140, ZNF26, ZNF605, ZNF84, ZNF891
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758322
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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