A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21805



Internal ID11039038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2634485..2702743hg38UCSC Ensembl
Innerchr1:2565924..2634182hg19UCSC Ensembl
Innerchr1:2555784..2624042hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3868259
hg1968259
hg1868259
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv12824, esv16589, esv12744, esv12016, esv21190, esv18116
SamplesNA18502, NA18861, NA18508, NA12414, NA12004, NA19190, NA12287, NA12156, NA12044, NA12828, NA11993, NA12489, NA12878, NA18907, NA07045, NA12239, NA15510, NA19099, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA18517, NA19240, NA07037, NA12749, NA12006
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)esv21805
Frequency
Sample Size40
Observed Gain23
Observed Loss8
Observed Complex0
Frequencyn/a


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