A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9472



Internal ID9631609
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 StatusS
Merged Variantsesv2757945
Supporting Variants
SamplesNA19208
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)essv9472
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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