A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659144



Internal ID9925249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4828133..4829736hg38UCSC Ensembl
chr16:4878134..4879737hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381604
hg191604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5528709, essv6234863, essv5795137, essv5998072, essv6315754, essv6332717, essv5711412, essv6378434, essv6088349, essv6279734
SamplesNA11830, HG01521, HG01389, HG00369, HG01495, NA12889, NA20770, HG00136, NA20826, NA19661
Known GenesGLYR1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659144
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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