A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11977



Internal ID11375896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74886046..74920552hg38UCSC Ensembl
Innerchr7:74302160..74335580hg19UCSC Ensembl
Innerchr7:73940096..73973516hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3834507
hg1933421
hg1833421
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv24294
Supporting Variantsessv55688, essv59760, essv64989, essv56053, essv34374, essv38675, essv61554, essv41546, essv47299, essv35460, essv32994, essv52773, essv58806, essv81405, essv69334
SamplesNA18502, NA18861, NA18508, NA12044, NA18907, NA19114, NA12239, NA19099, NA19257, NA18523, NA19108, NA19147, NA19240, NA18505, NA12776
Known GenesPMS2P5, STAG3L2
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)esv11977
Frequency
Sample Size40
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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