A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5440681



Internal ID8418084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:964412..970110hg38UCSC Ensembl
Outerchr12:964375..970165hg38UCSC Ensembl
Innerchr12:1073578..1079276hg19UCSC Ensembl
Outerchr12:1073541..1079331hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385791
hg195791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672518
Supporting Variants
SamplesNA19818
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5440681
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