A curated catalogue of human genomic structural variation




Variant Details

Variant: essv81669



Internal ID11017326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51802185..51804399hg38UCSC Ensembl
Innerchr6:51666983..51669197hg19UCSC Ensembl
Innerchr6:51774942..51777156hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg382215
hg192215
hg182215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv14630
Supporting Variants
SamplesNA19114
Known GenesPKHD1
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)essv81669
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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