A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21656



Internal ID4352557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:153687433..153750282hg38UCSC Ensembl
InnerchrX:152952888..153015736hg19UCSC Ensembl
InnerchrX:152606082..152668930hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3862850
hg1962849
hg1862849
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16337, esv16124, esv11280
SamplesNA19257, NA12044, NA12287
Known GenesABCD1, BCAP31, SLC6A8
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)esv21656
Frequency
Sample Size40
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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