A curated catalogue of human genomic structural variation




Variant Details

Variant: essv55300



Internal ID11014604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7019249..7061626hg38UCSC Ensembl
Innerchr19:7019260..7061637hg19UCSC Ensembl
Innerchr19:6970260..7012637hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3842378
hg1942378
hg1842378
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv19303
Supporting Variants
SamplesNA19099
Known GenesMBD3L2, MBD3L3, MBD3L4, MBD3L5
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)essv55300
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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