A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758312



Internal ID9633771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63516636..63858392hg38UCSC Ensembl
Innerchr12:63910416..64252172hg19UCSC Ensembl
Innerchr12:62196683..62538439hg18UCSC Ensembl
Innerchr12:62196683..62538439hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38341757
hg19341757
hg18341757
hg17341757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759905
Supporting Variantsessv21416, essv19452
SamplesNA12717, NA11840
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)esv2758312
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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