A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674019



Internal ID9940124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113602759..113618271hg38UCSC Ensembl
Outerchr5:113602602..113618424hg38UCSC Ensembl
Innerchr5:112938456..112953968hg19UCSC Ensembl
Outerchr5:112938299..112954121hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3815823
hg1915823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5850628, essv6045603
SamplesHG00361, HG00345
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674019
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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