A curated catalogue of human genomic structural variation




Variant Details

Variant: essv37837



Internal ID11372756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:97976398..97977732hg38UCSC Ensembl
Innerchr13:98628652..98629986hg19UCSC Ensembl
Innerchr13:97426653..97427987hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg381335
hg191335
hg181335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv13419
Supporting Variants
SamplesNA19257
Known GenesIPO5
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)essv37837
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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