A curated catalogue of human genomic structural variation




Variant Details

Variant: essv651



Internal ID9628318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28221363..28832650hg38UCSC Ensembl
Innerchr16:28232684..28843971hg19UCSC Ensembl
Innerchr16:28140185..28751472hg18UCSC Ensembl
Innerchr16:28140185..28751472hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38611288
hg19611288
hg18611288
hg17611288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758418
Supporting Variants
SamplesNA18975
Known GenesAPOBR, ATXN2L, CCDC101, CLN3, EIF3C, EIF3CL, IL27, MIR6862-1, MIR6862-2, NPIPB6, NUPR1, SBK1, SULT1A1, SULT1A2
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)essv651
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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