A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23404



Internal ID11040637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179638222..179638890hg38UCSC Ensembl
Innerchr1:179607357..179608025hg19UCSC Ensembl
Innerchr1:177873980..177874648hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38669
hg19669
hg18669
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv20879
SamplesNA18861, NA18523, NA19114, NA18511, NA12828, NA19257, NA12287, NA19147, NA12004, NA11894, NA11995, NA19190, NA12006, NA06985, NA18907, NA19099, NA12878, NA19240
Known GenesTDRD5
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)esv23404
Frequency
Sample Size40
Observed Gain15
Observed Loss3
Observed Complex0
Frequencyn/a


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