A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757855



Internal ID9633314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:1383319..1546611hg38UCSC Ensembl
Innerchr3:1425003..1588295hg19UCSC Ensembl
Innerchr3:1400003..1563295hg18UCSC Ensembl
Innerchr3:1400003..1563295hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38163293
hg19163293
hg18163293
hg17163293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759123
Supporting Variantsessv7266, essv21142
SamplesNA18592, NA12815
Known GenesCNTN6
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)esv2757855
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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