A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5594



Internal ID9627300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20446776..20650339hg38UCSC Ensembl
Innerchr13:21020915..21224478hg19UCSC Ensembl
Innerchr13:19918915..20122478hg18UCSC Ensembl
Innerchr13:19918915..20122478hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38203564
hg19203564
hg18203564
hg17203564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758324
Supporting Variants
SamplesNA18529
Known GenesCRYL1, IFT88
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)essv5594
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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