A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22988



Internal ID9621433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18106805..18852642hg38UCSC Ensembl
Innerchr16:18200662..18863964hg19UCSC Ensembl
Innerchr16:18108163..18771465hg18UCSC Ensembl
Innerchr16:18108163..18771465hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38745838
hg19663303
hg18663303
hg17663303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758413
Supporting Variants
SamplesNA07357
Known GenesABCC6P1, ARL6IP1, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8, RPS15A, SMG1
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)essv22988
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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