A curated catalogue of human genomic structural variation




Variant Details

Variant: esv25172



Internal ID11042405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109644224..109716486hg38UCSC Ensembl
Innerchr1:110186846..110259108hg19UCSC Ensembl
Innerchr1:109988369..110060631hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3872263
hg1972263
hg1872263
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13941, esv19304, esv15769, esv16117, esv14035, esv10506
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA18916, NA12287, NA12044, NA12878, NA18907, NA07045, NA19114, NA11894, NA12239, NA19099, NA19257, NA19225, NA06985, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA18505, NA19129, NA12006
Known GenesGSTM1, GSTM2, GSTM4, GSTM5
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)esv25172
Frequency
Sample Size40
Observed Gain28
Observed Loss10
Observed Complex0
Frequencyn/a


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