A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674074



Internal ID9593493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4330209..4335626hg38UCSC Ensembl
chr18:4330209..4335626hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg385418
hg195418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5797525, essv6410034, essv5987072, essv6476677, essv6251628, essv6542372, essv6270378, essv5639234, essv5464216, essv6593451, essv5738502, essv6051785, essv6122589
SamplesNA19712, NA18511, NA19223, NA19788, NA19257, NA19835, NA19213, NA18522, NA18504, NA18858, NA19371, NA19916, NA19350
Known GenesDLGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674074
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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