A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657513



Internal ID9923618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:173396767..173399036hg38UCSC Ensembl
Outerchr5:173396730..173399086hg38UCSC Ensembl
Innerchr5:172823770..172826039hg19UCSC Ensembl
Outerchr5:172823733..172826089hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382357
hg192357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5871156, essv6296070
SamplesNA19383, NA19316
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657513
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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