A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561050



Internal ID18762126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:222616993..222617235hg38UCSC Ensembl
Outerchr2:222616926..222617283hg38UCSC Ensembl
Innerchr2:223481712..223481954hg19UCSC Ensembl
Outerchr2:223481645..223482002hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9759797
Samples
Known GenesFARSB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561050
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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