A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758269



Internal ID9633728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:49190685..49447414hg38UCSC Ensembl
Innerchr11:49212237..49468966hg19UCSC Ensembl
Innerchr11:49168813..49425542hg18UCSC Ensembl
Innerchr11:49168813..49425542hg17UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38256730
hg19256730
hg18256730
hg17256730
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759825
Supporting Variantsessv23230, essv9672
SamplesNA07029, NA18913
Known GenesFOLH1
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)esv2758269
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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