A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28226



Internal ID11045459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79698891..79731760hg38UCSC Ensembl
Innerchr17:77672805..77705522hg19UCSC Ensembl
Innerchr17:75287400..75320117hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3832870
hg1932718
hg1832718
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19811, esv10632, esv10973
SamplesNA18861, NA07037, NA19257, NA19108, NA15510, NA18502, NA12156, NA19240
Known GenesENPP7, MIR4739
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)esv28226
Frequency
Sample Size40
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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