A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666612



Internal ID9932717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:89353747..89359652hg38UCSC Ensembl
Outerchr12:89353589..89359809hg38UCSC Ensembl
Innerchr12:89747524..89753429hg19UCSC Ensembl
Outerchr12:89747366..89753586hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg386221
hg196221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5833048, essv6074941
SamplesNA19338, NA19440
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666612
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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