A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12078



Internal ID11375997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:154660106..154664444hg38UCSC Ensembl
Innerchr7:154451816..154456154hg19UCSC Ensembl
Innerchr7:154082749..154087087hg18UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg384339
hg194339
hg184339
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26207
Supporting Variantsessv37580, essv38324, essv44280, essv83782, essv65657, essv34306
SamplesNA18502, NA19190, NA12489, NA11894, NA19257, NA19240
Known GenesDPP6
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)esv12078
Frequency
Sample Size40
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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