A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665858



Internal ID9585277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111174226..111176162hg38UCSC Ensembl
Outerchr12:111174069..111176315hg38UCSC Ensembl
Innerchr12:111612030..111613966hg19UCSC Ensembl
Outerchr12:111611873..111614119hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382247
hg192247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6293285
SamplesHG00419
Known GenesCUX2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665858
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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