A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26581



Internal ID11043814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75332657..75768048hg38UCSC Ensembl
Innerchr3:75381808..75817199hg19UCSC Ensembl
Innerchr3:75464498..75899889hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38435392
hg19435392
hg18435392
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11100, esv16165, esv16459, esv17725, esv10554, esv20724, esv15976, esv18196, esv13749
SamplesNA18502, NA11995, NA12414, NA11931, NA18916, NA12287, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA06985, NA18909, NA19108, NA19147, NA18517, NA07037, NA12749, NA18505, NA12776
Known GenesFAM86DP, FLJ20518, FRG2C, LINC00960, MIR1324, MIR4273, ZNF717
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)esv26581
Frequency
Sample Size40
Observed Gain23
Observed Loss2
Observed Complex0
Frequencyn/a


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