A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23086



Internal ID11040319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2767708..2778413hg38UCSC Ensembl
Innerchr1:2684255..2694960hg19UCSC Ensembl
Innerchr1:2674115..2684820hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3810706
hg1910706
hg1810706
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10077, esv19931
SamplesNA18502, NA18861, NA18508, NA19190, NA12287, NA12489, NA18907, NA19099, NA19225, NA18858, NA18909, NA18517, NA19240, NA07037
Known GenesTTC34
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)esv23086
Frequency
Sample Size40
Observed Gain12
Observed Loss2
Observed Complex0
Frequencyn/a


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