A curated catalogue of human genomic structural variation




Variant Details

Variant: essv60571



Internal ID11005095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82497647..82507689hg38UCSC Ensembl
Innerchr15:83166368..83176674hg19UCSC Ensembl
Innerchr15:80963423..80973729hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3810043
hg1910307
hg1810307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv16851
Supporting Variants
SamplesNA18523
Known GenesLOC727751, LOC80154
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)essv60571
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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