A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21265



Internal ID11385184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:179202003..179216705hg38UCSC Ensembl
Innerchr2:180066730..180081432hg19UCSC Ensembl
Innerchr2:179774975..179789677hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3814703
hg1914703
hg1814703
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25523
Supporting Variantsessv50587, essv56059, essv82481, essv69268, essv68096, essv43782, essv71005, essv38302, essv52615, essv44584, essv36263, essv50787, essv78954, essv48591, essv61954, essv46428
SamplesNA11931, NA18916, NA12044, NA12489, NA18907, NA19114, NA12239, NA19257, NA18858, NA18909, NA18517, NA07037, NA12749, NA19129, NA12006, NA12776
Known GenesSESTD1
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)esv21265
Frequency
Sample Size40
Observed Gain11
Observed Loss5
Observed Complex0
Frequencyn/a


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