A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28140



Internal ID11045373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:89200723..90014408hg38UCSC Ensembl
InnerchrX:88455722..89269407hg19UCSC Ensembl
InnerchrX:88342378..89156063hg18UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg38813686
hg19813686
hg18813686
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12175, esv16562, esv20506
SamplesNA18502, NA12414, NA12004, NA11993, NA15510, NA19099, NA19225, NA18858, NA19147, NA19240, NA12776
Known GenesTGIF2LX
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)esv28140
Frequency
Sample Size40
Observed Gain6
Observed Loss5
Observed Complex0
Frequencyn/a


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