A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660960



Internal ID9927065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4464674..4468883hg38UCSC Ensembl
chr20:4445321..4449530hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg384210
hg194210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6100223, essv5513211, essv6351505, essv5877674, essv5790514, essv6248857, essv5423944, essv6057213, essv5963580, essv6207534, essv6140885, essv5439359, essv5447489, essv5907057, essv6197480
SamplesNA19332, NA19746, NA18916, NA20340, NA19445, NA19985, NA19347, NA19334, NA19328, NA19438, NA19223, NA19713, NA19093, NA19116, NA18505
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660960
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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