A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5132



Internal ID9964881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57128456..57257826hg38UCSC Ensembl
Innerchr13:57702590..57831960hg19UCSC Ensembl
Innerchr13:56600591..56729961hg18UCSC Ensembl
Innerchr13:56600591..56729961hg17UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38129371
hg19129371
hg18129371
hg17129371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758328
Supporting Variants
SamplesNA18577
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)essv5132
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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