A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657045



Internal ID9576464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:110721163..110722097hg38UCSC Ensembl
Outerchr12:110721126..110722147hg38UCSC Ensembl
Innerchr12:111158968..111159902hg19UCSC Ensembl
Outerchr12:111158931..111159952hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381022
hg191022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6508306, essv5569727
SamplesHG00245, NA12842
Known GenesPPP1CC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657045
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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