A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28159



Internal ID11045392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59581059..59586696hg38UCSC Ensembl
Innerchr1:60046731..60052368hg19UCSC Ensembl
Innerchr1:59819319..59824956hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg385638
hg195638
hg185638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19156, esv11834, esv10585
SamplesNA18523, NA19114, NA11931, NA12828, NA12044, NA19147, NA12004, NA18916, NA19190, NA12006, NA18502, NA18907, NA18909, NA12156, NA12878, NA19225
Known GenesFGGY
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)esv28159
Frequency
Sample Size40
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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