A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9764910



Internal ID18739156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80606311..80608566hg38UCSC Ensembl
Outerchr5:80606263..80608857hg38UCSC Ensembl
Innerchr5:79902130..79904385hg19UCSC Ensembl
Outerchr5:79902082..79904676hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382595
hg192595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3566163
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9764910
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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