A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24763



Internal ID9956253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:101172022..101425018hg38UCSC Ensembl
Innerchr5:100507726..100760722hg19UCSC Ensembl
Innerchr5:100535625..100788621hg18UCSC Ensembl
Innerchr5:100535625..100788621hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38252997
hg19252997
hg18252997
hg17252997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758007
Supporting Variants
SamplesNA10860
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)essv24763
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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