A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19452



Internal ID9617505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63538594..63858392hg38UCSC Ensembl
Innerchr12:63932374..64252172hg19UCSC Ensembl
Innerchr12:62218641..62538439hg18UCSC Ensembl
Innerchr12:62218641..62538439hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38319799
hg19319799
hg18319799
hg17319799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758312
Supporting Variants
SamplesNA11840
Known GenesDPY19L2, SRGAP1, TMEM5
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)essv19452
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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