A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759949



Internal ID9982094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:74629914..74803451hg38UCSC Ensembl
Innerchr13:75204051..75377588hg19UCSC Ensembl
Innerchr13:74102052..74275589hg18UCSC Ensembl
Innerchr13:74102052..74275589hg17UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38173538
hg19173538
hg18173538
hg17173538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758332
SamplesNA11832
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)esv2759949
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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