A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758650



Internal ID9634109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:58545101..58842133hg38UCSC Ensembl
Innerchr16:58579005..58876037hg19UCSC Ensembl
Innerchr16:57136506..57433538hg18UCSC Ensembl
Innerchr16:57136506..57433538hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38297033
hg19297033
hg18297033
hg17297033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758427
SamplesNA12760, NA10838, NA18576, NA07000
Known GenesCNOT1, GOT2, SLC38A7, SNORA46, SNORA50
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)esv2758650
Frequency
Sample Size270
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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