A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26490



Internal ID11043723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:131110462..131114883hg38UCSC Ensembl
Innerchr10:132908725..132913146hg19UCSC Ensembl
Innerchr10:132798715..132803136hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg384422
hg194422
hg184422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17403
SamplesNA12414, NA11931, NA12287, NA11993, NA12878, NA15510, NA18523, NA19108, NA07037
Known GenesTCERG1L
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)esv26490
Frequency
Sample Size40
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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