A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758313



Internal ID9633772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71708684..71914393hg38UCSC Ensembl
Innerchr12:72102464..72308173hg19UCSC Ensembl
Innerchr12:70388731..70594440hg18UCSC Ensembl
Innerchr12:70388731..70594440hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38205710
hg19205710
hg18205710
hg17205710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759907
Supporting Variantsessv5556
SamplesNA18529
Known GenesMRS2P2, RAB21, TBC1D15
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)esv2758313
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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