A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22615



Internal ID11039848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25258734..25338704hg38UCSC Ensembl
Innerchr1:25585225..25665195hg19UCSC Ensembl
Innerchr1:25457812..25537782hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3879971
hg1979971
hg1879971
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19712, esv17091
SamplesNA18523, NA19114, NA18511, NA18517, NA12776, NA19257, NA19108, NA18505, NA12287, NA19147, NA12414, NA18508, NA12004, NA11894, NA18916, NA19190, NA12006, NA07045, NA12239, NA19129, NA18502, NA18858, NA18907, NA18909, NA12749, NA12156, NA19099, NA19225, NA11993, NA19240
Known GenesRHD, TMEM50A
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)esv22615
Frequency
Sample Size40
Observed Gain24
Observed Loss6
Observed Complex0
Frequencyn/a


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