A curated catalogue of human genomic structural variation




Variant Details

Variant: essv46329



Internal ID11019394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48004309..48160973hg38UCSC Ensembl
InnerchrX:47863707..48020401hg19UCSC Ensembl
InnerchrX:47748651..47905345hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38156665
hg19156695
hg18156695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv17364
Supporting Variants
SamplesNA19129
Known GenesSPACA5, SPACA5B, SSX6, ZNF630
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)essv46329
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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