A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9760013



Internal ID18734259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239408307..239414573hg38UCSC Ensembl
Outerchr2:239406807..239415191hg38UCSC Ensembl
Innerchr2:240330001..240336267hg19UCSC Ensembl
Outerchr2:240328501..240336885hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg388385
hg198385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3561266
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9760013
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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