A curated catalogue of human genomic structural variation




Variant Details

Variant: essv40464



Internal ID10996576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:3827281..3937819hg38UCSC Ensembl
InnerchrX:3745322..3855860hg19UCSC Ensembl
InnerchrX:3755322..3865860hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38110539
hg19110539
hg18110539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv12550
Supporting Variants
SamplesNA12878
Known GenesLOC389906
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)essv40464
Frequency
Sample Size40
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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