A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5793



Internal ID9627521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:88758827..89223720hg38UCSC Ensembl
Innerchr13:89411081..89875974hg19UCSC Ensembl
Innerchr13:88209082..88673975hg18UCSC Ensembl
Innerchr13:88209082..88673975hg17UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38464894
hg19464894
hg18464894
hg17464894
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758339
Supporting Variants
SamplesNA18566
Known Genes
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)essv5793
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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