A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548864



Internal ID18403254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21042212..21043442hg38UCSC Ensembl
Outerchr12:21041918..21043447hg38UCSC Ensembl
Innerchr12:21195146..21196376hg19UCSC Ensembl
Outerchr12:21194852..21196381hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg381530
hg191530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747611
Samples
Known GenesSLCO1B7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548864
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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