A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758528



Internal ID9633987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10337224..10510486hg38UCSC Ensembl
Innerchr21:11001971..11175233hg19UCSC Ensembl
Innerchr21:10023842..10197104hg18UCSC Ensembl
Innerchr21:10023842..10197104hg17UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38173263
hg19173263
hg18173263
hg17173263
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758808
Supporting Variantsessv12991, essv6137, essv15894, essv18176, essv10322
SamplesNA18859, NA18532, NA12057, NA19223, NA18506
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
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)esv2758528
Frequency
Sample Size270
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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