A curated catalogue of human genomic structural variation




Variant Details

Variant: esv15557



Internal ID11379476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:9404020..9414728hg38UCSC Ensembl
InnerchrX:9372060..9382768hg19UCSC Ensembl
InnerchrX:9332060..9342768hg18UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3810709
hg1910709
hg1810709
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26498
Supporting Variantsessv41689, essv62624, essv47635, essv49123, essv51479, essv36705, essv64837, essv73896, essv55225, essv46708, essv68815, essv39775, essv72313, essv75962
SamplesNA18861, NA12414, NA11931, NA12287, NA12156, NA07045, NA11894, NA15510, NA19099, NA19225, NA18858, NA07037, NA18505, NA19129
Known Genes
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)esv15557
Frequency
Sample Size40
Observed Gain8
Observed Loss6
Observed Complex0
Frequencyn/a


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