A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12575



Internal ID11376494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128660461..128661398hg38UCSC Ensembl
Innerchr3:128379304..128380241hg19UCSC Ensembl
Innerchr3:129861994..129862931hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38938
hg19938
hg18938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24393
Supporting Variantsessv56109, essv65270, essv46025, essv58593, essv37654, essv43006, essv48893, essv67153, essv81559, essv57716, essv44323, essv83237, essv80665, essv72774, essv47101, essv51220, essv49883, essv35339, essv64050, essv34270, essv54007, essv60822, essv78832, essv63381, essv67538, essv39659, essv33027, essv61984, essv54857, essv41154, essv76099, essv71586
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA19190, NA18916, NA12287, NA12828, NA11993, NA12489, NA18907, NA07045, NA19114, NA12239, NA15510, NA19099, NA19257, NA19225, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, 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)esv12575
Frequency
Sample Size40
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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