A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549803



Internal ID18404193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113938394..113938464hg38UCSC Ensembl
chr12:114376199..114376269hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748550
Samples
Known GenesRBM19
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549803
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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