A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24451



Internal ID11388370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:35796635..35799208hg38UCSC Ensembl
InnerchrX:35814752..35817325hg19UCSC Ensembl
InnerchrX:35724673..35727246hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg382574
hg192574
hg182574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv15282
SamplesNA18511
Known GenesMAGEB16
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)esv24451
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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