A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659676



Internal ID9579095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122212793..122214857hg38UCSC Ensembl
chr12:122697340..122699404hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382065
hg192065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6210025
SamplesHG00372
Known GenesDIABLO
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659676
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