A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15871



Internal ID9978588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57051490..57257826hg38UCSC Ensembl
Innerchr13:57625624..57831960hg19UCSC Ensembl
Innerchr13:56523625..56729961hg18UCSC Ensembl
Innerchr13:56523625..56729961hg17UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38206337
hg19206337
hg18206337
hg17206337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758328
Supporting Variants
SamplesNA19223
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
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)essv15871
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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