A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758804



Internal ID9980949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:61886206..62008187hg38UCSC Ensembl
Innerchr20:60461262..60583243hg19UCSC Ensembl
Innerchr20:59894657..60016638hg18UCSC Ensembl
Innerchr20:59894657..60016638hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38121982
hg19121982
hg18121982
hg17121982
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758524
SamplesNA18563, NA18970, NA18976, NA18573, NA18532, NA19144, NA18623, NA18612, NA11832, NA18620
Known GenesCDH4, MIR1257, TAF4
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)esv2758804
Frequency
Sample Size270
Observed Gain1
Observed Loss9
Observed Complex0
Frequencyn/a


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