A curated catalogue of human genomic structural variation




Variant Details

Variant: essv44383



Internal ID11338434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:30788726..30806686hg38UCSC Ensembl
InnerchrX:30806843..30824803hg19UCSC Ensembl
InnerchrX:30716764..30734724hg18UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3817961
hg1917961
hg1817961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv18051
Supporting Variants
SamplesNA12489
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)essv44383
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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