A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562578



Internal ID18763654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133784948..133786228hg38UCSC Ensembl
Outerchr3:133784643..133786493hg38UCSC Ensembl
Innerchr3:133503792..133505072hg19UCSC Ensembl
Outerchr3:133503487..133505337hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381851
hg191851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761325
Samples
Known GenesSRPRB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562578
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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