A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673834



Internal ID9593253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2219322..2241587hg38UCSC Ensembl
Outerchr16:2219285..2241637hg38UCSC Ensembl
Innerchr16:2269323..2291588hg19UCSC Ensembl
Outerchr16:2269286..2291638hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3822353
hg1922353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6462570
SamplesHG00537
Known GenesDNASE1L2, E4F1, ECI1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673834
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