A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677403



Internal ID9943508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76711811..76720263hg38UCSC Ensembl
Outerchr12:76711774..76720313hg38UCSC Ensembl
Innerchr12:77105591..77114043hg19UCSC Ensembl
Outerchr12:77105554..77114093hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg388540
hg198540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6342703
SamplesNA20544
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677403
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