A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17266



Internal ID9615076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21489241..21640384hg38UCSC Ensembl
Innerchr16:21500562..21651705hg19UCSC Ensembl
Innerchr16:21408063..21559206hg18UCSC Ensembl
Innerchr16:21408063..21559206hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38151144
hg19151144
hg18151144
hg17151144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758414
Supporting Variants
SamplesNA18503
Known GenesLOC100271836, METTL9, SLC7A5P2
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)essv17266
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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