A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10139



Internal ID11027373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:1365268..1367973hg38UCSC Ensembl
InnerchrX:1484161..1486866hg19UCSC Ensembl
InnerchrX:1444161..1446866hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg382706
hg192706
hg182706
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21933
Supporting Variantsessv39978, essv69818, essv75342, essv62763
SamplesNA12004, NA12044, NA12878, NA15510
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)esv10139
Frequency
Sample Size40
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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