A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759881



Internal ID9635340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16112158..16293444hg38UCSC Ensembl
Innerchr12:16265092..16446378hg19UCSC Ensembl
Innerchr12:16156359..16337645hg18UCSC Ensembl
Innerchr12:16156359..16337645hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38181287
hg19181287
hg18181287
hg17181287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758296
SamplesNA18547
Known GenesSLC15A5
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)esv2759881
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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