A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759137



Internal ID9634596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:29142404..29653997hg38UCSC Ensembl
Innerchr3:29183895..29695488hg19UCSC Ensembl
Innerchr3:29158899..29670492hg18UCSC Ensembl
Innerchr3:29158899..29670492hg17UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38511594
hg19511594
hg18511594
hg17511594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757864
SamplesNA19159, NA18853
Known GenesRBMS3
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)esv2759137
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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