A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13874



Internal ID9611307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21590306..21780161hg38UCSC Ensembl
Innerchr16:21601627..21791482hg19UCSC Ensembl
Innerchr16:21509128..21698983hg18UCSC Ensembl
Innerchr16:21509128..21698983hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38189856
hg19189856
hg18189856
hg17189856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758414
Supporting Variants
SamplesNA18854
Known GenesIGSF6, METTL9, OTOA
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)essv13874
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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