A curated catalogue of human genomic structural variation

Variant Details

Variant: esv25681

Internal ID11042914
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152301739..152315063hg38UCSC Ensembl
Innerchr1:152274215..152287539hg19UCSC Ensembl
Innerchr1:150540839..150554163hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18892, esv20418
SamplesNA18511, NA19257, NA19108, NA18505, NA12044, NA06985, NA18858, NA18907, NA19240
Known GenesFLG, FLG-AS1
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
Pubmed ID19812545
Accession Number(s)esv25681
Sample Size40
Observed Gain0
Observed Loss9
Observed Complex0

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