A curated catalogue of human genomic structural variation




Variant Details

Variant: essv36845



Internal ID10979923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:49529312..49606445hg38UCSC Ensembl
InnerchrX:49293915..49371048hg19UCSC Ensembl
InnerchrX:49180859..49257995hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3877134
hg1977134
hg1877137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv15384
Supporting Variants
SamplesNA11894
Known GenesGAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE2C, GAGE2E, GAGE6, GAGE8
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)essv36845
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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