A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758492



Internal ID9980569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:24167763..24374561hg38UCSC Ensembl
Innerchr19:24350565..24557363hg19UCSC Ensembl
Innerchr19:24142405..24349203hg18UCSC Ensembl
Innerchr19:24142405..24349203hg17UCSC Ensembl
Cytoband19p11
Allele length
AssemblyAllele length
hg38206799
hg19206799
hg18206799
hg17206799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758751
Supporting Variantsessv5457
SamplesNA18632
Known Genes
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)esv2758492
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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