A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659181



Internal ID9578600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:95649267..95651647hg38UCSC Ensembl
Outerchr5:95649110..95651800hg38UCSC Ensembl
Innerchr5:94984971..94987351hg19UCSC Ensembl
Outerchr5:94984814..94987504hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg382691
hg192691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6504742
SamplesNA19213
Known GenesRFESD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659181
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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