A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759129



Internal ID9981274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12928670..13249054hg38UCSC Ensembl
Innerchr3:12970170..13290554hg19UCSC Ensembl
Innerchr3:12945170..13265554hg18UCSC Ensembl
Innerchr3:12945170..13265554hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38320385
hg19320385
hg18320385
hg17320385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757858
SamplesNA18552
Known GenesIQSEC1
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)esv2759129
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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