A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19106



Internal ID9617121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25839397..26008183hg38UCSC Ensembl
Innerchr12:25992331..26161116hg19UCSC Ensembl
Innerchr12:25883598..26052383hg18UCSC Ensembl
Innerchr12:25883598..26052383hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38168787
hg19168786
hg18168786
hg17168786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758300
Supporting Variants
SamplesNA07055
Known GenesMIR4302, RASSF8, RASSF8-AS1
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)essv19106
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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