A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24809



Internal ID9623457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28672127..28832650hg38UCSC Ensembl
Innerchr16:28683448..28843971hg19UCSC Ensembl
Innerchr16:28590949..28751472hg18UCSC Ensembl
Innerchr16:28590949..28751472hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38160524
hg19160524
hg18160524
hg17160524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758418
Supporting Variants
SamplesNA10860
Known GenesATXN2L, EIF3C, EIF3CL, MIR6862-1, MIR6862-2
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)essv24809
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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