A curated catalogue of human genomic structural variation




Variant Details

Variant: essv79773



Internal ID10993486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161512125..161676453hg38UCSC Ensembl
Innerchr1:161481915..161646243hg19UCSC Ensembl
Innerchr1:159748539..159912867hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38164329
hg19164329
hg18164329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv12861
Supporting Variants
SamplesNA12749
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)essv79773
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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