A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20121



Internal ID11384040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46375056..46592064hg38UCSC Ensembl
Innerchr10:46957553..47175720hg19UCSC Ensembl
Innerchr10:46377559..46595726hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38217009
hg19218168
hg18218168
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22204
Supporting Variantsessv52422, essv41549, essv65060, essv34610, essv46176, essv38306, essv49344, essv54763, essv64521, essv73035, essv53795
SamplesNA18502, NA18508, NA07045, NA19099, NA19257, NA19225, NA18517, NA19240, NA18505, NA19129, NA12006
Known GenesANXA8, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
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)esv20121
Frequency
Sample Size40
Observed Gain1
Observed Loss10
Observed Complex0
Frequencyn/a


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