A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662078



Internal ID9928183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5927635..5934111hg38UCSC Ensembl
chr18:5927634..5934110hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg386477
hg196477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5945009, essv6579963, essv6259580, essv5722402, essv5617702
SamplesNA18502, NA18510, NA19446, NA18933, NA19390
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662078
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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