A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24252



Internal ID11041485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51802185..51810822hg38UCSC Ensembl
Innerchr6:51666983..51675620hg19UCSC Ensembl
Innerchr6:51774942..51783579hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg388638
hg198638
hg188638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14630, esv15820, esv11611, esv14519, esv14184
SamplesNA07037, NA18523, NA19114, NA11931, NA19257, NA19108, NA15510, NA12044, NA12287, NA19147, NA12414, NA12004, NA19190, NA12006, NA18909, NA12749, NA19099, NA12878, NA11993
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)esv24252
Frequency
Sample Size40
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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