A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663510



Internal ID9929615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20224308..20225503hg38UCSC Ensembl
chr8:20081819..20083014hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381196
hg191196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6568052, essv6052289, essv6092729, essv6172675, essv6318574, essv5881623, essv6449703, essv5410566
SamplesNA19701, NA19819, NA18489, NA19385, NA18908, NA19380, NA19213, HG01377
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663510
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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