A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17821



Internal ID9955109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:78437267..78707185hg38UCSC Ensembl
Innerchr14:78903610..79173528hg19UCSC Ensembl
Innerchr14:77973363..78243281hg18UCSC Ensembl
Innerchr14:77973363..78243281hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38269919
hg19269919
hg18269919
hg17269919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758363
Supporting Variants
SamplesNA10831
Known GenesNRXN3
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)essv17821
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