A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758357



Internal ID9980434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:45236879..45513207hg38UCSC Ensembl
Innerchr14:45706082..45982410hg19UCSC Ensembl
Innerchr14:44775832..45052160hg18UCSC Ensembl
Innerchr14:44775832..45052160hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38276329
hg19276329
hg18276329
hg17276329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759987
Supporting Variantsessv10891, essv10857, essv8914
SamplesNA19209, NA19200, NA18871
Known GenesMIS18BP1
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)esv2758357
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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