A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23428



Internal ID11040661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99400192..99409010hg38UCSC Ensembl
Innerchr12:99793970..99802788hg19UCSC Ensembl
Innerchr12:98318101..98326919hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg388819
hg198819
hg188819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv21039
SamplesNA18502, NA18861, NA12414, NA11931, NA12004, NA19190, NA12878, NA18858, NA19108, NA12749, NA12776
Known GenesANKS1B
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)esv23428
Frequency
Sample Size40
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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