A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5918740



Internal ID8896143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116865114..116866433hg38UCSC Ensembl
chr11:116735830..116737149hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381320
hg191320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668806
Supporting Variants
SamplesNA20773
Known GenesSIK3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5918740
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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