A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675688



Internal ID9941793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111040040..111046731hg38UCSC Ensembl
Outerchr5:111039883..111046884hg38UCSC Ensembl
Innerchr5:110375738..110382429hg19UCSC Ensembl
Outerchr5:110375581..110382582hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg387002
hg197002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5804560
SamplesHG01375
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675688
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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