A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28941



Internal ID11046174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:49529312..49617313hg38UCSC Ensembl
InnerchrX:49293915..49381916hg19UCSC Ensembl
InnerchrX:49180859..49268876hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3888002
hg1988002
hg1888018
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15384
SamplesNA18502, NA18861, NA12414, NA19190, NA12287, NA11894, NA15510, NA19257, NA19225, NA18858, NA19108, NA18517, NA19240, NA19129, NA12006, NA18511
Known GenesGAGE1, GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE2C, GAGE2E, GAGE6, GAGE8
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)esv28941
Frequency
Sample Size40
Observed Gain12
Observed Loss4
Observed Complex0
Frequencyn/a


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