A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6575



Internal ID9628390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18106805..18658666hg38UCSC Ensembl
Innerchr16:18200662..18669988hg19UCSC Ensembl
Innerchr16:18108163..18577489hg18UCSC Ensembl
Innerchr16:18108163..18577489hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38551862
hg19469327
hg18469327
hg17469327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758413
Supporting Variants
SamplesNA18621
Known GenesABCC6P1, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8
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)essv6575
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