A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758198



Internal ID9633657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112478174..113240671hg38UCSC Ensembl
Innerchr9:115240454..116002951hg19UCSC Ensembl
Innerchr9:114280275..115042772hg18UCSC Ensembl
Innerchr9:112320009..113082505hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38762498
hg19762498
hg18762498
hg17762497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759710
Supporting Variantsessv10910, essv16551, essv11277, essv10694, essv11113, essv22891, essv15663, essv789
SamplesNA19204, NA18855, NA19209, NA19210, NA12760, NA18956, NA18912, NA19211
Known GenesFAM225A, FAM225B, FKBP15, INIP, KIAA1958, SLC31A1, SLC31A2, SLC46A2, SNX30, ZFP37, ZNF883
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)esv2758198
Frequency
Sample Size270
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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