A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759989



Internal ID9982134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46324449..46479323hg38UCSC Ensembl
Innerchr14:46793652..46948526hg19UCSC Ensembl
Innerchr14:45863402..46018276hg18UCSC Ensembl
Innerchr14:45863402..46018276hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38154875
hg19154875
hg18154875
hg17154875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758358
SamplesNA18981
Known GenesLINC00871
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)esv2759989
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