A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19645



Internal ID11036879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243619448..243620563hg38UCSC Ensembl
Innerchr1:243782750..243783865hg19UCSC Ensembl
Innerchr1:241849373..241850488hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381116
hg191116
hg181116
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28291
Supporting Variantsessv41930, essv67859, essv61458, essv72647, essv45268, essv42940, essv58226, essv50935, essv54320, essv35837, essv83893, essv66036, essv34724, essv78200, essv32921, essv53231, essv70603, essv38620, essv49324, essv77469, essv60361, essv47686, essv81764
SamplesNA18861, NA18523, NA19114, NA18511, NA11931, NA18517, NA19257, NA19108, NA18505, NA19147, NA18508, NA18916, NA19190, NA12239, NA19129, NA06985, NA18502, NA18858, NA18907, NA18909, NA19099, NA19225, NA19240
Known GenesAKT3
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)esv19645
Frequency
Sample Size40
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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