A curated catalogue of human genomic structural variation




Variant Details

Variant: essv75099



Internal ID10984071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25258885..25338352hg38UCSC Ensembl
Innerchr1:25585376..25664843hg19UCSC Ensembl
Innerchr1:25457963..25537430hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3879468
hg1979468
hg1879468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv17091
Supporting Variants
SamplesNA12004
Known GenesRHD, TMEM50A
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)essv75099
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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