A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12413



Internal ID9609685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45755555..45956108hg38UCSC Ensembl
Innerchr12:46149338..46349891hg19UCSC Ensembl
Innerchr12:44435605..44636158hg18UCSC Ensembl
Innerchr12:44435605..44636158hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38200554
hg19200554
hg18200554
hg17200554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758306
Supporting Variants
SamplesNA19238
Known GenesARID2, SCAF11
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)essv12413
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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