A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667686



Internal ID9933791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8671425..8681009hg38UCSC Ensembl
Outerchr12:8671268..8681162hg38UCSC Ensembl
Innerchr12:8824021..8833605hg19UCSC Ensembl
Outerchr12:8823864..8833758hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg389895
hg199895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6460565
SamplesNA20507
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667686
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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