A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9761446



Internal ID18735692
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 StatusS
Merged Variantsesv3562699
Supporting Variants
Samples
Known GenesCPB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9761446
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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