A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25781



Internal ID11043014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48003245..48443386hg38UCSC Ensembl
InnerchrX:47862644..48301765hg19UCSC Ensembl
InnerchrX:47747588..48186709hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38440142
hg19439122
hg18439122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17364, esv13084, esv11928
SamplesNA12287, NA19190, NA19129, NA06985, NA12156, NA19240
Known GenesSPACA5, SPACA5B, SSX1, SSX3, SSX4, SSX4B, SSX5, SSX6, SSX9, ZNF182, 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)esv25781
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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