A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26121



Internal ID11043354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115020681..115560070hg38UCSC Ensembl
Innerchr1:115563302..116102691hg19UCSC Ensembl
Innerchr1:115364825..115904214hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38539390
hg19539390
hg18539390
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19081, esv18479, esv11355
SamplesNA11995, NA11931, NA12287, NA18523, NA18517, NA12749
Known GenesNGF, TSHB, TSPAN2
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)esv26121
Frequency
Sample Size40
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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