A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758291



Internal ID9633750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6344718..6554669hg38UCSC Ensembl
Innerchr12:6453884..6663835hg19UCSC Ensembl
Innerchr12:6324145..6534096hg18UCSC Ensembl
Innerchr12:6324145..6534096hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38209952
hg19209952
hg18209952
hg17209952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759876
Supporting Variantsessv11538
SamplesNA19173
Known GenesCD27, CD27-AS1, GAPDH, IFFO1, LTBR, MRPL51, NCAPD2, SCARNA10, SCNN1A, TAPBPL, VAMP1
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)esv2758291
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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