A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19491



Internal ID11383410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125953618..125956846hg38UCSC Ensembl
Innerchr3:125672461..125675689hg19UCSC Ensembl
Innerchr3:127155151..127158379hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg383229
hg193229
hg183229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25189
Supporting Variantsessv70876, essv53620, essv38412, essv43760, essv55896, essv41958, essv50379, essv33059, essv45386, essv34905, essv48265, essv57286, essv65084, essv55187, essv35879, essv67810, essv71776, essv61102, essv60383, essv66562, essv52610, essv74522
SamplesNA18502, NA18508, NA12004, NA18916, NA12828, NA11993, NA18907, NA12239, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19147, NA18517, NA19240, NA07037, NA18505, NA19129, NA12006, 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)esv19491
Frequency
Sample Size40
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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