A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv245e199



Internal ID20123547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116865114..116866642hg38UCSC Ensembl
chr11:116735830..116737358hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381529
hg191529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2668806, esv2675319
SamplesNA07346, HG01168, NA20795, NA12348, NA20760, HG01334, HG00146, NA20773, HG00254, NA19780, HG01061
Known GenesSIK3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv245e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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