A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3875



Internal ID9625390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18035399..19147984hg38UCSC Ensembl
Innerchr16:18129256..19159306hg19UCSC Ensembl
Innerchr16:18036757..19066807hg18UCSC Ensembl
Innerchr16:18036757..19066807hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381112586
hg191030051
hg181030051
hg171030051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758413
Supporting Variants
SamplesNA18994
Known GenesABCC6P1, ARL6IP1, COQ7, ITPRIPL2, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8, RPS15A, SMG1, TMC7
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)essv3875
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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