A curated catalogue of human genomic structural variation




Variant Details

Variant: essv17506



Internal ID9615343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64006869..64182778hg38UCSC Ensembl
Innerchr20:62638222..62814131hg19UCSC Ensembl
Innerchr20:62108666..62284575hg18UCSC Ensembl
Innerchr20:62108666..62284575hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38175910
hg19175910
hg18175910
hg17175910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758527
Supporting Variants
SamplesNA12762
Known GenesC20orf201, LINC00176, MIR6813, MYT1, NPBWR2, OPRL1, PRPF6, RGS19, SOX18, TCEA2
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)essv17506
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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