A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1632



Internal ID9968688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19677885..19947286hg38UCSC Ensembl
Innerchr14:20146044..20415445hg19UCSC Ensembl
Innerchr14:19215884..19485285hg18UCSC Ensembl
Innerchr14:19215884..19485285hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38269402
hg19269402
hg18269402
hg17269402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758348
Supporting Variants
SamplesNA18942
Known GenesOR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
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)essv1632
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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