A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667972



Internal ID9934077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41100863..41124005hg38UCSC Ensembl
Outerchr12:41100826..41124055hg38UCSC Ensembl
Innerchr12:41494665..41517807hg19UCSC Ensembl
Outerchr12:41494628..41517857hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3823230
hg1923230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6384085
SamplesNA19147
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667972
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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