A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628793



Internal ID6668935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20845534..20860158hg38UCSC Ensembl
Innerchr12:20845534..20860158hg38UCSC Ensembl
Outerchr12:20845034..20860658hg38UCSC Ensembl
chr12:20998468..21013092hg19UCSC Ensembl
Innerchr12:20998468..21013092hg19UCSC Ensembl
Outerchr12:20997968..21013592hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3814625
hg1914625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14405608, essv14405607
SamplesHG00759, NA18747
Known GenesSLCO1B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628793
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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