A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758321



Internal ID9633780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130371694..130935124hg17UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg17563431
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759922
Supporting Variantsessv11260, essv7079, essv16904
SamplesNA19204, NA19205, NA18537
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)esv2758321
Frequency
Sample Size270
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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