A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758405



Internal ID9633864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31052..143601hg38UCSC Ensembl
Innerchr16:81052..193600hg19UCSC Ensembl
Innerchr16:21052..133600hg18UCSC Ensembl
Innerchr16:21052..133600hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38112550
hg19112549
hg18112549
hg17112549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760065
Supporting Variantsessv12276, essv4758, essv24685, essv11205, essv16832, essv10149, essv9369, essv11953, essv24282, essv14317, essv9057, essv11185, essv16017, essv10670, essv9422, essv14727, essv8172, essv10268, essv15748, essv11671
SamplesNA18502, NA11829, NA19204, NA18855, NA19131, NA19130, NA19159, NA19194, NA19205, NA19208, NA19154, NA18853, NA19101, NA19132, NA10856, NA19206, NA18501, NA19211, NA18506, NA18620
Known GenesMPG, NPRL3, POLR3K, RHBDF1, SNRNP25
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)esv2758405
Frequency
Sample Size270
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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