A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27600



Internal ID11044833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:228368..312771hg38UCSC Ensembl
InnerchrX:145035..229438hg19UCSC Ensembl
InnerchrX:85035..169438hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3884404
hg1984404
hg1884404
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12381, esv16176, esv21180, esv18057, esv10660, esv15189, esv14144, esv16802, esv11668, esv13647, esv15555, esv10086, esv15030, esv11350, esv13753, esv11362
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006, NA18511, NA12776
Known GenesGTPBP6, PLCXD1
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)esv27600
Frequency
Sample Size40
Observed Gain30
Observed Loss25
Observed Complex0
Frequencyn/a


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