A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758669



Internal ID9634128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88392764..88543508hg38UCSC Ensembl
Innerchr16:88459172..88609916hg19UCSC Ensembl
Innerchr16:86986673..87137417hg18UCSC Ensembl
Innerchr16:86986673..87137417hg17UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38150745
hg19150745
hg18150745
hg17150745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758436
SamplesNA18948, NA18943
Known GenesMIR5189, ZFPM1, ZNF469
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)esv2758669
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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