A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757857



Internal ID9633316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4142242..4378673hg38UCSC Ensembl
Innerchr3:4183926..4420357hg19UCSC Ensembl
Innerchr3:4158926..4395357hg18UCSC Ensembl
Innerchr3:4158926..4395357hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38236432
hg19236432
hg18236432
hg17236432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759126
Supporting Variantsessv4060
SamplesNA18635
Known GenesSETMAR, SUMF1
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)esv2757857
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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