A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26986



Internal ID11044219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100211754..100339724hg38UCSC Ensembl
Innerchr7:99809377..99937347hg19UCSC Ensembl
Innerchr7:99647313..99775283hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38127971
hg19127971
hg18127971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16057, esv16361
SamplesNA18861, NA18907, NA19114, NA12239, NA19099, NA19257, NA18523, NA18858, NA19108, NA19147, NA18505, NA12776
Known GenesGATS, PMS2P1, PVRIG, SPDYE3, STAG3, 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)esv26986
Frequency
Sample Size40
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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