A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4879



Internal ID9964117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:83484422..83703562hg38UCSC Ensembl
Innerchr13:84058557..84277697hg19UCSC Ensembl
Innerchr13:82956558..83175698hg18UCSC Ensembl
Innerchr13:82956558..83175698hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38219141
hg19219141
hg18219141
hg17219141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758337
Supporting Variants
SamplesNA18561
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)essv4879
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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