A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668892



Internal ID9588311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99684454..99694293hg38UCSC Ensembl
Outerchr12:99684297..99694446hg38UCSC Ensembl
Innerchr12:100078232..100088071hg19UCSC Ensembl
Outerchr12:100078075..100088224hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3810150
hg1910150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5977978
SamplesHG00654
Known GenesANKS1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668892
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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