A curated catalogue of human genomic structural variation




Variant Details

Variant: esv9836



Internal ID11047275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6712390..6715105hg38UCSC Ensembl
Innerchr5:6712503..6715218hg19UCSC Ensembl
Innerchr5:6765503..6768218hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg382716
hg192716
hg182716
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23095
Supporting Variantsessv75573, essv36128, essv40344, essv49182, essv38842, essv63674
SamplesNA12414, NA12878, NA18907, NA07045, NA19257, NA07037
Known GenesPAPD7
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)esv9836
Frequency
Sample Size40
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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