A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669976



Internal ID9936081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55696480..55698274hg38UCSC Ensembl
chr18:53363711..53365505hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg381795
hg191795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5840367, essv5643758, essv6098702, essv6134597, essv6598168, essv6443636, essv5479741, essv5603523, essv6327325, essv5457054, essv6297029, essv5794776, essv5789354, essv5777303, essv6154670, essv6220158, essv6191408, essv5798073, essv5531708, essv6542974, essv5825381, essv6082297, essv5561851, essv5538161, essv5399336, essv6316852, essv5979290, essv5669150, essv5556195, essv5729730, essv6292819, essv5591731, essv6108951, essv6595176, essv6041487, essv6456358, essv5926415, essv5508033
SamplesNA19701, NA19393, NA20346, NA19443, NA19381, NA19171, NA19201, NA19382, NA19313, NA19138, NA19681, NA19371, NA19471, NA19317, NA18520, NA19239, NA19445, NA18867, NA19707, NA18907, NA18856, NA19453, NA19099, NA19338, NA19469, NA18858, NA19440, NA19108, NA19473, NA19331, NA19380, NA20790, NA19334, NA19470, NA19428, NA18873, NA18505, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669976
Frequency
Sample Size1151
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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