A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670426



Internal ID9589845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122408983..122411114hg38UCSC Ensembl
Outerchr12:122408946..122411164hg38UCSC Ensembl
Innerchr12:122893530..122895661hg19UCSC Ensembl
Outerchr12:122893493..122895711hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382219
hg192219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv324e199
Supporting Variantsessv5749236
SamplesHG01051
Known GenesCLIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670426
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