A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26263



Internal ID11043496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207523136..207581541hg38UCSC Ensembl
Innerchr1:207696481..207754886hg19UCSC Ensembl
Innerchr1:205763104..205821509hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3858406
hg1958406
hg1858406
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19203, esv20307, esv11404
SamplesNA18502, NA11995, NA11931, NA19190, NA12287, NA12489, NA12878, NA12239, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA07037, NA12749, NA12006, NA18511
Known GenesCR1
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)esv26263
Frequency
Sample Size40
Observed Gain15
Observed Loss4
Observed Complex0
Frequencyn/a


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