A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10987



Internal ID11374906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185520474..185522930hg38UCSC Ensembl
Innerchr4:186441628..186444084hg19UCSC Ensembl
Innerchr4:186678622..186681078hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382457
hg192457
hg182457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28251
Supporting Variantsessv43766, essv65801, essv45838, essv32507, essv75184, essv37731, essv52228, essv72998, essv55701, essv83182, essv49855, essv58096, essv35375, essv52944, essv77187, essv60299, essv71427, essv82463, essv41500, essv67564, essv47831, essv34482
SamplesNA18502, NA18861, NA18508, NA12004, NA19190, NA18916, NA18907, NA19114, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA18505, NA19129, NA12006, NA18511
Known GenesPDLIM3
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)esv10987
Frequency
Sample Size40
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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