A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16607



Internal ID11033841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:261804..262542hg38UCSC Ensembl
Innerchr3:303487..304225hg19UCSC Ensembl
Innerchr3:278487..279225hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38739
hg19739
hg18739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26398
Supporting Variantsessv48921, essv50164, essv64614, essv67735, essv66163, essv37919, essv60332, essv83353, essv71651, essv77980, essv57834, essv36309, essv50741, essv33403, essv45652, essv81909, essv39585, essv44007, essv79207, essv47103, essv61043, essv52386, essv58801, essv75062, essv75848
SamplesNA18861, NA12414, NA11931, NA12004, NA19190, NA12287, NA11993, NA18907, NA07045, NA19114, NA12239, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA19129, NA12006
Known GenesCHL1
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)esv16607
Frequency
Sample Size40
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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