A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757945



Internal ID9633404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:101741542..102087783hg38UCSC Ensembl
Innerchr4:102662699..103008940hg19UCSC Ensembl
Innerchr4:102881722..103227963hg18UCSC Ensembl
Innerchr4:103019877..103366118hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38346242
hg19346242
hg18346242
hg17346242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759269
Supporting Variantsessv8137, essv9472
SamplesNA19208, NA19206
Known GenesBANK1
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)esv2757945
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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