A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758527



Internal ID9633986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64006869..64334167hg38UCSC Ensembl
Innerchr20:62638222..62965520hg19UCSC Ensembl
Innerchr20:62108666..62435964hg18UCSC Ensembl
Innerchr20:62108666..62435964hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38327299
hg19327299
hg18327299
hg17327299
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758807
Supporting Variantsessv10540, essv1785, essv16303, essv19242, essv17907, essv16084, essv3166, essv20032, essv17506, essv10840, essv8191, essv15034
SamplesNA07048, NA12762, NA12003, NA19161, NA18871, NA10838, NA19012, NA19240, NA18501, NA19116, NA19129, NA18997
Known GenesC20orf201, LINC00176, LINC00266-1, 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)esv2758527
Frequency
Sample Size270
Observed Gain6
Observed Loss6
Observed Complex0
Frequencyn/a


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