A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661460



Internal ID9580879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56364347..56383820hg38UCSC Ensembl
chr12:56758131..56777604hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3819474
hg1919474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6460102
SamplesNA18874
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661460
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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