A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9760588



Internal ID18388148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47449542..47451488hg38UCSC Ensembl
Outerchr3:47449077..47452044hg38UCSC Ensembl
Innerchr3:47491032..47492978hg19UCSC Ensembl
Outerchr3:47490567..47493534hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382968
hg192968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3561841
Supporting Variants
Samples
Known GenesSCAP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9760588
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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