A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758927



Internal ID9634386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21896028..22086364hg38UCSC Ensembl
Innerchr1:22222521..22412857hg19UCSC Ensembl
Innerchr1:22095108..22285444hg18UCSC Ensembl
Innerchr1:21967827..22158163hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38190337
hg19190337
hg18190337
hg17190337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757727
SamplesNA12057
Known GenesCDC42, CELA3A, CELA3B, HSPG2, LINC00339
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)esv2758927
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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