A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759286



Internal ID9981431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:138223374..138391734hg38UCSC Ensembl
Innerchr4:139144528..139312888hg19UCSC Ensembl
Innerchr4:139363978..139532338hg18UCSC Ensembl
Innerchr4:139502133..139670493hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38168361
hg19168361
hg18168361
hg17168361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757958
SamplesNA12145
Known GenesLINC00499, SLC7A11
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)esv2759286
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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