A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13086



Internal ID9610432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38330880..38436270hg38UCSC Ensembl
Innerchr20:36959282..37064913hg19UCSC Ensembl
Innerchr20:36392696..36498327hg18UCSC Ensembl
Innerchr20:36392696..36498327hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38105391
hg19105632
hg18105632
hg17105632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758520
Supporting Variants
SamplesNA18852
Known GenesBPI, LBP, SNHG17, SNORA71A, SNORA71B, SNORA71C, SNORA71D
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)essv13086
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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