A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6400



Internal ID9628197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:364160..544890hg38UCSC Ensembl
Innerchr8:314160..494890hg19UCSC Ensembl
Innerchr8:304160..484890hg18UCSC Ensembl
Innerchr8:304160..484890hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38180731
hg19180731
hg18180731
hg17180731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758144
Supporting Variants
SamplesNA18572
Known GenesFAM87A, FBXO25, TDRP
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)essv6400
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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