A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759217



Internal ID18386777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165158426..165159980hg38UCSC Ensembl
Outerchr2:165158133..165160357hg38UCSC Ensembl
Innerchr2:166014936..166016490hg19UCSC Ensembl
Outerchr2:166014643..166016867hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382225
hg192225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560470
Supporting Variants
Samples
Known GenesSCN3A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759217
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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