A curated catalogue of human genomic structural variation




Variant Details

Variant: esv10250



Internal ID11027484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52255901..52258568hg38UCSC Ensembl
Innerchr10:54015661..54018328hg19UCSC Ensembl
Innerchr10:53685667..53688334hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg382668
hg192668
hg182668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27800
Supporting Variantsessv74109, essv51218, essv75169, essv33613, essv44042, essv75482, essv80397, essv56144, essv70160, essv57387, essv35609, essv61963, essv39167, essv49675
SamplesNA11995, NA12414, NA11931, NA12004, NA18916, NA12287, NA12156, NA11993, NA18907, NA12239, NA18909, NA19147, NA18517, NA12776
Known GenesPRKG1
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)esv10250
Frequency
Sample Size40
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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