A curated catalogue of human genomic structural variation




Variant Details

Variant: essv60980



Internal ID10988384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45511813..45627332hg38UCSC Ensembl
Innerchr17:43589179..43704698hg19UCSC Ensembl
Innerchr17:40944962..41060481hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38115520
hg19115520
hg18115520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv18131
Supporting Variants
SamplesNA12239
Known GenesCRHR1, LOC644172, LRRC37A4P, MGC57346
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)essv60980
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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