A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758426



Internal ID9633885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55635484..55949678hg38UCSC Ensembl
Innerchr16:55669396..55983590hg19UCSC Ensembl
Innerchr16:54226897..54541091hg18UCSC Ensembl
Innerchr16:54226897..54541091hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38314195
hg19314195
hg18314195
hg17314195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758649
Supporting Variantsessv889, essv1251, essv20105, essv6143
SamplesNA18995, NA07048, NA19000, NA18532
Known GenesCES1, CES1P1, CES1P2, CES5A, SLC6A2
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)esv2758426
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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