A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677840



Internal ID9597259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84393910..84395739hg38UCSC Ensembl
Outerchr16:84393873..84395789hg38UCSC Ensembl
Innerchr16:84427516..84429345hg19UCSC Ensembl
Outerchr16:84427479..84429395hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381917
hg191917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6252344
SamplesNA18510
Known GenesATP2C2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677840
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