A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658973



Internal ID9925078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80356962..80363514hg38UCSC Ensembl
chr5:79652781..79659333hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg386553
hg196553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5586022, essv5528681, essv6168446, essv6291547, essv6538574, essv5776880, essv5907737
SamplesNA19350, NA19377, NA19723, NA19904, NA19385, NA19437, NA18907
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658973
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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