A curated catalogue of human genomic structural variation




Variant Details

Variant: essv32747



Internal ID11020686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:19356191..19356804hg38UCSC Ensembl
InnerchrX:19374309..19374922hg19UCSC Ensembl
InnerchrX:19284230..19284843hg18UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38614
hg19614
hg18614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv13583
Supporting Variants
SamplesNA19147
Known GenesPDHA1
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)essv32747
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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