A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664098



Internal ID9583517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:39631783..39680465hg38UCSC Ensembl
Outerchr18:39631746..39680515hg38UCSC Ensembl
Innerchr18:37211747..37260429hg19UCSC Ensembl
Outerchr18:37211710..37260479hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3848770
hg1948770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6239782
SamplesNA20529
Known GenesLINC00669, MIR5583-1, MIR5583-2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664098
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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