A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16269



Internal ID11380188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25362120..25425281hg38UCSC Ensembl
Innerchr1:25688611..25751772hg19UCSC Ensembl
Innerchr1:25561198..25624359hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3863162
hg1963162
hg1863162
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28510
Supporting Variantsessv50433, essv35690, essv63583, essv68858, essv54467, essv37583, essv66039, essv75238, essv59796, essv82318, essv58539, essv53964, essv75558, essv32237, essv71449, essv39838, essv46356, essv43733, essv72785, essv41661, essv38820, essv73668, essv77373, essv79371, essv62015, essv52317, essv57642, essv35019, essv83616
SamplesNA18502, NA18508, NA12414, NA12004, NA19190, NA18916, NA12287, NA12156, NA11993, NA18907, NA07045, NA19114, NA11894, NA12239, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA12749, NA18505, NA19129, NA12006, NA18511
Known GenesRHCE, 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)esv16269
Frequency
Sample Size40
Observed Gain23
Observed Loss6
Observed Complex0
Frequencyn/a


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