A curated catalogue of human genomic structural variation




Variant Details

Variant: esv13436



Internal ID11030670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51871370..51871978hg38UCSC Ensembl
Innerchr6:51736168..51736776hg19UCSC Ensembl
Innerchr6:51844127..51844735hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38609
hg19609
hg18609
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23003
Supporting Variantsessv55654, essv71368, essv64366, essv39169, essv76372, essv49358, essv37135, essv79250, essv80163, essv66809, essv66141, essv62734, essv42867, essv38436
SamplesNA11995, NA12414, NA18916, NA12287, NA12828, NA07045, NA11894, NA15510, NA19099, NA19257, NA18909, NA18517, NA19240, NA12749
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)esv13436
Frequency
Sample Size40
Observed Gain8
Observed Loss6
Observed Complex0
Frequencyn/a


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