A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5532



Internal ID9375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119951017..120275750hg19UCSC Ensembl
chr8:120020198..120344931hg18UCSC Ensembl
chr8:120020198..120344931hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV CNV
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variants
SamplesNA18529
Known GenesCOLEC10, MAL2, TNFRSF11B
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)essv5532
Frequency
Sample Size271
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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