A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15663



Internal ID9613295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:113063511..113240671hg38UCSC Ensembl
Innerchr9:115825791..116002951hg19UCSC Ensembl
Innerchr9:114865612..115042772hg18UCSC Ensembl
Innerchr9:112905346..113082505hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38177161
hg19177161
hg18177161
hg17177160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758198
Supporting Variants
SamplesNA18912
Known GenesFAM225A, FAM225B, FKBP15, SLC31A1, SLC31A2
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)essv15663
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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