A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28659



Internal ID11045892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82988945..82990603hg38UCSC Ensembl
Innerchr15:83657697..83659355hg19UCSC Ensembl
Innerchr15:81448701..81450359hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg381659
hg191659
hg181659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18356, esv18735
SamplesNA18502, NA18916, NA19257, NA18523
Known GenesC15orf40, FAM103A1
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)esv28659
Frequency
Sample Size40
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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