A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759953



Internal ID9635412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:83120666..83306931hg38UCSC Ensembl
Innerchr13:83694801..83881066hg19UCSC Ensembl
Innerchr13:82592802..82779067hg18UCSC Ensembl
Innerchr13:82592802..82779067hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38186266
hg19186266
hg18186266
hg17186266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758336
SamplesNA19193
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)esv2759953
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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