A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657817



Internal ID9923922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:153986721..153990127hg38UCSC Ensembl
Outerchr5:153986564..153990292hg38UCSC Ensembl
Innerchr5:153366281..153369687hg19UCSC Ensembl
Outerchr5:153366124..153369852hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg383729
hg193729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5511953, essv6062155
SamplesHG00654, HG00656
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657817
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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