A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17149



Internal ID9614946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14528198..14781654hg38UCSC Ensembl
Innerchr16:14622055..14875511hg19UCSC Ensembl
Innerchr16:14529556..14783012hg18UCSC Ensembl
Innerchr16:14529556..14783012hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38253457
hg19253457
hg18253457
hg17253457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758411
Supporting Variants
SamplesNA19171
Known GenesBFAR, NPIPA2, NPIPA3, PARN, PLA2G10
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)essv17149
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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