A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10869



Internal ID11374788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65121363..65141451hg38UCSC Ensembl
Innerchr7:64581741..64601829hg19UCSC Ensembl
Innerchr7:64219176..64239264hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3820089
hg1920089
hg1820089
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24002
Supporting Variantsessv76611, essv67521, essv38974, essv58261, essv34710, essv75851, essv66929, essv69545, essv62595, essv61265, essv64409, essv60094, essv44329, essv57446, essv74444, essv43042, essv56463, essv45834, essv40610, essv42035, essv54366, essv71423, essv53759, essv65269, essv52672, essv37894, essv32791, essv79951, essv36591
SamplesNA18502, NA11995, NA18508, NA12414, NA12004, NA18916, NA12287, NA12044, NA12828, NA11993, NA12489, NA12878, NA07045, NA11894, NA12239, NA15510, NA19099, NA19257, NA18523, NA18858, NA18909, NA19108, NA19147, NA19240, NA18505, NA19129, NA12006, NA18511, NA12776
Known Genes
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)esv10869
Frequency
Sample Size40
Observed Gain2
Observed Loss27
Observed Complex0
Frequencyn/a


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