A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758302



Internal ID9980379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29870234..30022299hg38UCSC Ensembl
Innerchr12:30023167..30175232hg19UCSC Ensembl
Innerchr12:29914434..30066499hg18UCSC Ensembl
Innerchr12:29914434..30066499hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38152066
hg19152066
hg18152066
hg17152066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759889
Supporting Variantsessv13146, essv13437, essv12230
SamplesNA19192, NA19101, NA19102
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)esv2758302
Frequency
Sample Size270
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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