A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671791



Internal ID9591210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112003717..112013251hg38UCSC Ensembl
Outerchr5:112003680..112013301hg38UCSC Ensembl
Innerchr5:111339414..111348948hg19UCSC Ensembl
Outerchr5:111339377..111348998hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg389622
hg199622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6564153
SamplesNA19403
Known GenesNREP-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671791
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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