A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3547886



Internal ID18748962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62873847..62873933hg38UCSC Ensembl
chr11:62641319..62641405hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746633
Samples
Known GenesSLC3A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3547886
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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