A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12354



Internal ID9609619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14894753..15272693hg38UCSC Ensembl
Innerchr16:14988610..15366550hg19UCSC Ensembl
Innerchr16:14896111..15274051hg18UCSC Ensembl
Innerchr16:14896111..15274051hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38377941
hg19377941
hg18377941
hg17377941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758411
Supporting Variants
SamplesNA19138
Known GenesLOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR6511A-2, MIR6511B-1, MIR6770-2, NOMO1, NPIPA1, NTAN1, PDXDC1, RRN3
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)essv12354
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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