A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675365



Internal ID9941470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:148505510..148508722hg38UCSC Ensembl
chr4:149426662..149429874hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg383213
hg193213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6281885, essv6315732, essv5584404, essv5576726, essv5778152
SamplesNA19916, NA20581, NA19375, NA19256, NA19102
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675365
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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