A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11265



Internal ID11028499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16680907..16727801hg38UCSC Ensembl
Innerchr1:17007402..17054296hg19UCSC Ensembl
Innerchr1:16879989..16926883hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3846895
hg1946895
hg1846895
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29642
Supporting Variantsessv72349, essv54627, essv37002, essv63334, essv51322, essv47040, essv33577, essv45112, essv39492, essv50526, essv38426, essv74221
SamplesNA18861, NA11931, NA12287, NA12156, NA12489, NA11894, NA15510, NA19099, NA19257, NA19225, NA19147, NA18517
Known GenesESPNP, MIR3675
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)esv11265
Frequency
Sample Size40
Observed Gain3
Observed Loss9
Observed Complex0
Frequencyn/a


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