A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29782



Internal ID11047015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2972711..2973864hg38UCSC Ensembl
Innerchr3:3014395..3015548hg19UCSC Ensembl
Innerchr3:2989395..2990548hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg381154
hg191154
hg181154
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13832
SamplesNA12044, NA19129
Known GenesCNTN4
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)esv29782
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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