A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757900



Internal ID9633359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:157372377..157536895hg38UCSC Ensembl
Innerchr3:157090166..157254684hg19UCSC Ensembl
Innerchr3:158572860..158737378hg18UCSC Ensembl
Innerchr3:158572868..158737386hg17UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg38164519
hg19164519
hg18164519
hg17164519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759193
Supporting Variantsessv16320
SamplesNA19193
Known GenesPTX3, VEPH1
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)esv2757900
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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