A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678939



Internal ID9945044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49448290..49453983hg38UCSC Ensembl
Outerchr12:49448253..49454033hg38UCSC Ensembl
Innerchr12:49842073..49847766hg19UCSC Ensembl
Outerchr12:49842036..49847816hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg385781
hg195781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5825414
SamplesNA19384
Known GenesSPATS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678939
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