A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29730



Internal ID11046963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237542598..237549085hg38UCSC Ensembl
Innerchr2:238451241..238457728hg19UCSC Ensembl
Innerchr2:238115980..238122467hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg386488
hg196488
hg186488
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16965, esv21162
SamplesNA19114, NA18517, NA19257, NA18505, NA12044, NA18508, NA11894, NA11995, NA12006, NA07045, NA18907, NA11993
Known GenesMLPH
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)esv29730
Frequency
Sample Size40
Observed Gain11
Observed Loss1
Observed Complex0
Frequencyn/a


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