A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759990



Internal ID9982135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47790954..47977120hg38UCSC Ensembl
Innerchr14:48260157..48446323hg19UCSC Ensembl
Innerchr14:47329907..47516073hg18UCSC Ensembl
Innerchr14:47329907..47516073hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38186167
hg19186167
hg18186167
hg17186167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758359
SamplesNA19129
Known GenesLINC00648
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)esv2759990
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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