A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29188



Internal ID11393107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:36625800..36633264hg38UCSC Ensembl
Innerchr11:36647350..36654814hg19UCSC Ensembl
Innerchr11:36603926..36611390hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg387465
hg197465
hg187465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14043
SamplesNA18907, NA19099, NA19225, NA18523
Known GenesC11orf74
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)esv29188
Frequency
Sample Size40
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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