A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10387



Internal ID11027621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:1333142..1334361hg38UCSC Ensembl
InnerchrX:1452035..1453254hg19UCSC Ensembl
InnerchrX:1412035..1413254hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg381220
hg191220
hg181220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21933
Supporting Variantsessv58964, essv68632
SamplesNA18858, NA19108
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)esv10387
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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