A curated catalogue of human genomic structural variation




Variant Details

Variant: essv78317



Internal ID10975282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:1364623..1377038hg38UCSC Ensembl
InnerchrX:1483516..1495931hg19UCSC Ensembl
InnerchrX:1443516..1455931hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3812416
hg1912416
hg1812416
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv11725
Supporting Variants
SamplesNA06985
Known GenesIL3RA
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)essv78317
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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