A curated catalogue of human genomic structural variation




Variant Details

Variant: essv69218



Internal ID11332440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:69827850..69833123hg38UCSC Ensembl
Innerchr13:70401982..70407255hg19UCSC Ensembl
Innerchr13:69299983..69305256hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg385274
hg195274
hg185274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv12608
Supporting Variants
SamplesNA12044
Known GenesKLHL1
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)essv69218
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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