A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12988



Internal ID9967422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57051490..57245226hg38UCSC Ensembl
Innerchr13:57625624..57819360hg19UCSC Ensembl
Innerchr13:56523625..56717361hg18UCSC Ensembl
Innerchr13:56523625..56717361hg17UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38193737
hg19193737
hg18193737
hg17193737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758328
Supporting Variants
SamplesNA18859
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)essv12988
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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