A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548860



Internal ID18749936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20709611..20709919hg38UCSC Ensembl
Outerchr12:20709536..20709961hg38UCSC Ensembl
Innerchr12:20862545..20862853hg19UCSC Ensembl
Outerchr12:20862470..20862895hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747607
Samples
Known GenesSLCO1C1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548860
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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