A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671421



Internal ID9937526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:137809979..137816042hg38UCSC Ensembl
Outerchr5:137809942..137816092hg38UCSC Ensembl
Innerchr5:137145668..137151731hg19UCSC Ensembl
Outerchr5:137145631..137151781hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386151
hg196151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5889034
SamplesHG00125
Known GenesNPY6R
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671421
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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