A curated catalogue of human genomic structural variation




Variant Details

Variant: essv62354



Internal ID10998028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157857950..157860085hg38UCSC Ensembl
Innerchr7:157650642..157652777hg19UCSC Ensembl
Innerchr7:157343403..157345538hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg382136
hg192136
hg182136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv20539
Supporting Variants
SamplesNA15510
Known GenesLOC100506585, PTPRN2
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)essv62354
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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