A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19536



Internal ID11036770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:71579306..71580296hg38UCSC Ensembl
InnerchrX:70799156..70800146hg19UCSC Ensembl
InnerchrX:70715881..70716871hg18UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38991
hg19991
hg18991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27144
Supporting Variantsessv69817, essv57212
SamplesNA12044, NA11993
Known GenesACRC, BCYRN1
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)esv19536
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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