A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9240



Internal ID9974035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12467720..12630190hg38UCSC Ensembl
Innerchr12:12620654..12783124hg19UCSC Ensembl
Innerchr12:12511921..12674391hg18UCSC Ensembl
Innerchr12:12511921..12674391hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38162471
hg19162471
hg18162471
hg17162471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758295
Supporting Variants
SamplesNA19128
Known GenesCREBL2, DUSP16
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)essv9240
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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