A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758645



Internal ID9634104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:48295526..48445843hg38UCSC Ensembl
Innerchr16:48329437..48479754hg19UCSC Ensembl
Innerchr16:46886938..47037255hg18UCSC Ensembl
Innerchr16:46886938..47037255hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38150318
hg19150318
hg18150318
hg17150318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758424
SamplesNA18524
Known GenesLOC100507577, LONP2, MIR548AE2, SIAH1
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)esv2758645
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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