A curated catalogue of human genomic structural variation




Variant Details

Variant: essv57733



Internal ID11328249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121390716..121397253hg38UCSC Ensembl
Innerchr1:121132577..121139113hg19UCSC Ensembl
Innerchr1:120834100..120840636hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg386538
hg196537
hg186537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv11495
Supporting Variants
SamplesNA11993
Known GenesSRGAP2-AS1
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)essv57733
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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