A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758331



Internal ID9980408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:71754193..71911267hg38UCSC Ensembl
Innerchr13:72328325..72485405hg19UCSC Ensembl
Innerchr13:71226326..71383406hg18UCSC Ensembl
Innerchr13:71226326..71383406hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38157075
hg19157081
hg18157081
hg17157081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759947
Supporting Variantsessv22597, essv21006
SamplesNA06991, NA07348
Known GenesDACH1
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)esv2758331
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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