A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4907



Internal ID9964089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12786209..12986789hg38UCSC Ensembl
Innerchr5:12786321..12986901hg19UCSC Ensembl
Innerchr5:12839321..13039901hg18UCSC Ensembl
Innerchr5:12839321..13039901hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38200581
hg19200581
hg18200581
hg17200581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757984
Supporting Variants
SamplesNA18561
Known GenesCT49
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)essv4907
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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