A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1594



Internal ID9613602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14894753..15104501hg38UCSC Ensembl
Innerchr16:14988610..15198358hg19UCSC Ensembl
Innerchr16:14896111..15105859hg18UCSC Ensembl
Innerchr16:14896111..15105859hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38209749
hg19209749
hg18209749
hg17209749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758411
Supporting Variants
SamplesNA18942
Known GenesLOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, 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)essv1594
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer