A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759627



Internal ID18733873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207362579..207366777hg38UCSC Ensembl
Outerchr2:207362277..207367276hg38UCSC Ensembl
Innerchr2:208227303..208231501hg19UCSC Ensembl
Outerchr2:208227001..208232000hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560880
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759627
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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