A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5471620



Internal ID9875827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68514798..68625304hg38UCSC Ensembl
Outerchr4:68514427..68625674hg38UCSC Ensembl
Innerchr4:69380516..69491022hg19UCSC Ensembl
Outerchr4:69380145..69491392hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38111248
hg19111248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658282
Supporting Variants
SamplesNA20586
Known GenesUGT2B17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5471620
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