A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9764742



Internal ID18738988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62279000..62280327hg38UCSC Ensembl
Outerchr5:62278936..62280648hg38UCSC Ensembl
Innerchr5:61574827..61576154hg19UCSC Ensembl
Outerchr5:61574763..61576475hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg381713
hg191713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3565995
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9764742
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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