A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628798



Internal ID6668940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20905397..20996642hg38UCSC Ensembl
Innerchr12:20905397..20996642hg38UCSC Ensembl
Outerchr12:20904897..20997142hg38UCSC Ensembl
chr12:21058331..21149576hg19UCSC Ensembl
Innerchr12:21058331..21149576hg19UCSC Ensembl
Outerchr12:21057831..21150076hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3891246
hg1991246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14406002, essv14406003
SamplesHG03856, HG01531
Known GenesSLCO1B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628798
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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