A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757854



Internal ID9633313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:1227411..1383319hg38UCSC Ensembl
Innerchr3:1269095..1425003hg19UCSC Ensembl
Innerchr3:1244095..1400003hg18UCSC Ensembl
Innerchr3:1244095..1400003hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38155909
hg19155909
hg18155909
hg17155909
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)esv2757854
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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