A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759105



Internal ID9634564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183503745..183694180hg38UCSC Ensembl
Innerchr2:184368473..184558908hg19UCSC Ensembl
Innerchr2:184076718..184267153hg18UCSC Ensembl
Innerchr2:184193979..184384414hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38190436
hg19190436
hg18190436
hg17190436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757843
SamplesNA18965
Known Genes
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)esv2759105
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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