A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22009



Internal ID11039242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119984324..120154511hg38UCSC Ensembl
Innerchr1:120526947..120697078hg19UCSC Ensembl
Innerchr1:120328470..120498601hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38170188
hg19170132
hg18170132
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11320, esv20760, esv15218
SamplesNA18502, NA11995, NA18508, NA12414, NA11931, NA12004, NA18916, NA12287, NA12044, NA11993, NA12878, NA07045, NA11894, NA12239, NA15510, NA19099, NA06985, NA18517, NA07037, NA12749, NA18505, NA12006, NA12776
Known GenesNOTCH2
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)esv22009
Frequency
Sample Size40
Observed Gain23
Observed Loss5
Observed Complex0
Frequencyn/a


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