A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658616



Internal ID9924721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104336912..104338669hg38UCSC Ensembl
chr12:104730690..104732447hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381758
hg191758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5686207, essv6443457, essv6505432, essv5779915, essv6471965, essv5473956, essv5874749, essv6547378, essv5667727, essv6485681, essv6010338, essv6246939, essv6421013
SamplesHG00189, NA12414, HG00151, NA19819, NA12413, HG00139, HG00137, HG00176, NA11919, NA07051, HG00252, HG00554, NA12776
Known GenesTXNRD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658616
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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