A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10240



Internal ID11027474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11692301..11697849hg38UCSC Ensembl
Innerchr2:11832427..11837975hg19UCSC Ensembl
Innerchr2:11749878..11755426hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385549
hg195549
hg185549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26740
Supporting Variantsessv60687, essv77086, essv49507
SamplesNA18523, NA18511, NA18517
Known GenesLPIN1
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)esv10240
Frequency
Sample Size40
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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