A curated catalogue of human genomic structural variation




Variant Details

Variant: essv56957



Internal ID11328512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:81917591..81949370hg38UCSC Ensembl
Innerchr9:84532506..84564285hg19UCSC Ensembl
Innerchr9:83722326..83754105hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3831780
hg1931780
hg1831780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv17765
Supporting Variants
SamplesNA11993
Known GenesSPATA31D3, SPATA31D4, SPATA31D5P
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)essv56957
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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