A curated catalogue of human genomic structural variation




Variant Details

Variant: essv77909



Internal ID10975754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161511520..161673678hg38UCSC Ensembl
Innerchr1:161481310..161643468hg19UCSC Ensembl
Innerchr1:159747934..159910092hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38162159
hg19162159
hg18162159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv12861
Supporting Variants
SamplesNA06985
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)essv77909
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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