A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759975



Internal ID9982120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:25758674..25935912hg38UCSC Ensembl
Innerchr14:26227880..26405118hg19UCSC Ensembl
Innerchr14:25297720..25474958hg18UCSC Ensembl
Innerchr14:25297720..25474958hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38177239
hg19177239
hg18177239
hg17177239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758350
SamplesNA18547, NA07048, NA10831, NA19161, NA18976, NA18981, NA12264, NA12707, NA18945, NA11882, NA10859, NA19129, NA18624, NA07034, NA18620
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)esv2759975
Frequency
Sample Size270
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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