A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562699



Internal ID18763775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:148849020..148849317hg38UCSC Ensembl
Outerchr3:148848950..148849353hg38UCSC Ensembl
Innerchr3:148566807..148567104hg19UCSC Ensembl
Outerchr3:148566737..148567140hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761446
Samples
Known GenesCPB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562699
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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