A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6378



Internal ID9628171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:126314..383816hg38UCSC Ensembl
Innerchr9:126314..383816hg19UCSC Ensembl
Innerchr9:116314..373816hg18UCSC Ensembl
Innerchr9:116314..373816hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38257503
hg19257503
hg18257503
hg17257503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758174
Supporting Variants
SamplesNA18572
Known GenesC9orf66, CBWD1, DOCK8
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)essv6378
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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