A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16303



Internal ID9614007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64006869..64274842hg38UCSC Ensembl
Innerchr20:62638222..62906195hg19UCSC Ensembl
Innerchr20:62108666..62376639hg18UCSC Ensembl
Innerchr20:62108666..62376639hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38267974
hg19267974
hg18267974
hg17267974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758527
Supporting Variants
SamplesNA19161
Known GenesC20orf201, LINC00176, MIR6813, MYT1, NPBWR2, OPRL1, PCMTD2, 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)essv16303
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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