A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24903



Internal ID11042136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:18259540..18263301hg38UCSC Ensembl
InnerchrX:18277660..18281421hg19UCSC Ensembl
InnerchrX:18187581..18191342hg18UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg383762
hg193762
hg183762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv18551, esv10165
SamplesNA18508, NA19190, NA19225, NA19108, NA19147, NA19129
Known GenesSCML2
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)esv24903
Frequency
Sample Size40
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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