A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678984



Internal ID9945089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:97796..101330hg38UCSC Ensembl
Outerchr5:97639..101483hg38UCSC Ensembl
Innerchr5:97911..101445hg19UCSC Ensembl
Outerchr5:97754..101598hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383845
hg193845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5416372, essv6276825
SamplesNA19819, NA18853
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678984
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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