A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759956



Internal ID9635415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:87504346..87662294hg38UCSC Ensembl
Innerchr13:88156601..88314549hg19UCSC Ensembl
Innerchr13:86954602..87112550hg18UCSC Ensembl
Innerchr13:86954602..87112550hg17UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38157949
hg19157949
hg18157949
hg17157949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758338
SamplesNA10831
Known GenesMIR4500, MIR4500HG
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)esv2759956
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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