A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17442



Internal ID11381361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71115076..71120682hg38UCSC Ensembl
Innerchr2:71342206..71347812hg19UCSC Ensembl
Innerchr2:71195714..71201320hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385607
hg195607
hg185607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22790
Supporting Variantsessv65069, essv32511, essv52838, essv42466, essv60826, essv46963
SamplesNA18861, NA18508, NA18523, NA19147, NA19240, NA18505
Known GenesMCEE
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)esv17442
Frequency
Sample Size40
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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