A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671812



Internal ID9937917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22445240..22447072hg38UCSC Ensembl
chr18:20025203..20027035hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381833
hg191833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5868102, essv5822542, essv6217611, essv6259700, essv5642844, essv6042215, essv6210172, essv6154555
SamplesNA19437, NA19707, NA19391, NA19982, NA19334, NA19428, NA19102, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671812
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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