A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671518



Internal ID2904605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45045451..45046134hg38UCSC Ensembl
chr18:42625416..42626099hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38684
hg19684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5900956, essv5869513, essv5396404, essv6372959, essv5493400, essv5605045, essv6597187, essv5509441, essv6183856, essv6360086
SamplesNA19819, NA11918, NA18511, NA18516, NA18547, NA18916, NA19190, NA18498, NA19238, NA19240
Known GenesSETBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671518
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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