A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678734



Internal ID9944839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31191365..31195961hg38UCSC Ensembl
chr18:28771328..28775924hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg384597
hg194597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5395948, essv5882053, essv5493022, essv6526819, essv6474081, essv5847732, essv6074975, essv5623812, essv6152333, essv6277049, essv6458199, essv5704518, essv5711641, essv6210257
SamplesNA19701, NA19703, NA18510, NA18868, NA19235, NA19451, NA19403, NA19455, NA19338, NA19108, NA19712, NA18501, NA19711, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678734
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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