A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759983



Internal ID9635442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:41576670..41790308hg38UCSC Ensembl
Innerchr14:42045873..42259511hg19UCSC Ensembl
Innerchr14:41115623..41329261hg18UCSC Ensembl
Innerchr14:41115623..41329261hg17UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38213639
hg19213639
hg18213639
hg17213639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758353
SamplesNA19003
Known GenesLRFN5
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)esv2759983
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