A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659790



Internal ID9579209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120687193..120691087hg38UCSC Ensembl
Outerchr12:120687156..120691137hg38UCSC Ensembl
Innerchr12:121124996..121128890hg19UCSC Ensembl
Outerchr12:121124959..121128940hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383982
hg193982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5654724
SamplesNA12763
Known GenesMLEC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659790
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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