A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758314



Internal ID9980391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72596927..72857329hg38UCSC Ensembl
Innerchr12:72990707..73251109hg19UCSC Ensembl
Innerchr12:71276974..71537376hg18UCSC Ensembl
Innerchr12:71276974..71537376hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38260403
hg19260403
hg18260403
hg17260403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759908
Supporting Variantsessv1236
SamplesNA18995
Known GenesTRHDE
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)esv2758314
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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