A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675027



Internal ID9941132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:76065185..76074364hg38UCSC Ensembl
Outerchr18:76065028..76074517hg38UCSC Ensembl
Innerchr18:73777140..73786319hg19UCSC Ensembl
Outerchr18:73776983..73786472hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg389490
hg199490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5767181, essv5906065
SamplesHG00442, NA18560
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675027
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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