A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677022



Internal ID9943127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80367195..80397825hg38UCSC Ensembl
chr5:79663014..79693644hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3830631
hg1930631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6433984, essv6428760
SamplesNA20819, NA20812
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677022
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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