A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676925



Internal ID9943030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70889294..70891972hg38UCSC Ensembl
chr6:71598997..71601675hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg382679
hg192679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5577534, essv6250118
SamplesNA19819, NA19449
Known GenesB3GAT2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676925
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer