A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16361



Internal ID11033595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100300580..100336406hg38UCSC Ensembl
Innerchr7:99898203..99934029hg19UCSC Ensembl
Innerchr7:99736139..99771965hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3835827
hg1935827
hg1835827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26986
Supporting Variantsessv32785, essv81895, essv47157, essv56203, essv36248, essv42277, essv60813, essv68611, essv38237, essv54962, essv58089
SamplesNA18861, NA18907, NA19114, NA19099, NA19257, NA18523, NA18858, NA19108, NA19147, NA18505, NA12776
Known GenesPMS2P1, SPDYE3, STAG3L5P, STAG3L5P-PVRIG2P-PILRB
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)esv16361
Frequency
Sample Size40
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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