A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759108



Internal ID9634567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187515315..187638458hg38UCSC Ensembl
Innerchr2:188380042..188503185hg19UCSC Ensembl
Innerchr2:188088287..188211430hg18UCSC Ensembl
Innerchr2:188205548..188328691hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38123144
hg19123144
hg18123144
hg17123144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757845
SamplesNA10857
Known GenesTFPI
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)esv2759108
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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