A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15295



Internal ID11379214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:61133629..61134697hg38UCSC Ensembl
Innerchr4:61999347..62000415hg19UCSC Ensembl
Innerchr4:61681942..61683010hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg381069
hg191069
hg181069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25438
Supporting Variantsessv72311, essv67966, essv63445, essv37703, essv83334, essv42331, essv50802, essv36256, essv76509, essv60688, essv81229, essv53136
SamplesNA18508, NA11931, NA19190, NA18907, NA19114, NA15510, NA19257, NA19225, NA18523, NA18858, NA18505, NA18511
Known Genes
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)esv15295
Frequency
Sample Size40
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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