A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759088



Internal ID9634547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:121564189..121724747hg38UCSC Ensembl
Innerchr2:122321765..122482323hg19UCSC Ensembl
Innerchr2:122038235..122198793hg18UCSC Ensembl
Innerchr2:122037995..122198553hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38160559
hg19160559
hg18160559
hg17160559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757830
SamplesNA18992
Known GenesCLASP1, NIFK-AS1
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)esv2759088
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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