A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758186



Internal ID9980263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:30209652..30431509hg38UCSC Ensembl
Innerchr9:30209650..30431507hg19UCSC Ensembl
Innerchr9:30199650..30421507hg18UCSC Ensembl
Innerchr9:30199650..30421507hg17UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38221858
hg19221858
hg18221858
hg17221858
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759687
Supporting Variantsessv10205, essv11709
SamplesNA19152, NA19154
Known GenesLOC401497
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)esv2758186
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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