A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16723



Internal ID11380642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:99863828..99865924hg38UCSC Ensembl
Innerchr7:99461451..99463547hg19UCSC Ensembl
Innerchr7:99299387..99301483hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382097
hg192097
hg182097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv29538
Supporting Variantsessv68657, essv43939, essv47760, essv59990, essv49522, essv65855, essv35882, essv58396, essv70153, essv72512, essv54582
SamplesNA18861, NA18916, NA18907, NA19099, NA19225, NA18523, NA18858, NA18909, NA19108, NA18517, NA19240
Known GenesCYP3A43
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)esv16723
Frequency
Sample Size40
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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