A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24114



Internal ID11041347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7018519..7063202hg38UCSC Ensembl
Innerchr19:7018530..7063213hg19UCSC Ensembl
Innerchr19:6969530..7014213hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3844684
hg1944684
hg1844684
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19303
SamplesNA18861, NA12776, NA12287, NA18916, NA18858, NA18907, NA12749, NA19099, NA19240
Known GenesMBD3L2, MBD3L3, MBD3L4, MBD3L5
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)esv24114
Frequency
Sample Size40
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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