A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669481



Internal ID9935586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113487867..113491229hg38UCSC Ensembl
Outerchr5:113487830..113491279hg38UCSC Ensembl
Innerchr5:112823564..112826926hg19UCSC Ensembl
Outerchr5:112823527..112826976hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg383450
hg193450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6491789
SamplesNA20783
Known GenesMCC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669481
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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