A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22084



Internal ID11386003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:19722156..19728790hg38UCSC Ensembl
Innerchr19:19832965..19839599hg19UCSC Ensembl
Innerchr19:19693965..19700599hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg386635
hg196635
hg186635
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17935, esv11743
SamplesNA18502, NA11995, NA18508, NA12414, NA19190, NA12044, NA11993, NA12489, NA12878, NA18907, NA11894, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19147, NA12749, NA19129, NA12006, NA12776
Known GenesZNF14
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)esv22084
Frequency
Sample Size40
Observed Gain18
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer