A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9761319



Internal ID18388879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133415239..133415699hg38UCSC Ensembl
Outerchr3:133415185..133415737hg38UCSC Ensembl
Innerchr3:133134083..133134543hg19UCSC Ensembl
Outerchr3:133134029..133134581hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3562572
Supporting Variants
Samples
Known GenesBFSP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9761319
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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