A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676787



Internal ID9942892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86341629..86382110hg38UCSC Ensembl
chr12:86735407..86775888hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3840482
hg1940482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6012776
SamplesNA19909
Known GenesMGAT4C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676787
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