A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678588



Internal ID9944693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:33541665..33548207hg38UCSC Ensembl
Outerchr18:33541631..33548242hg38UCSC Ensembl
Innerchr18:31121629..31128171hg19UCSC Ensembl
Outerchr18:31121595..31128206hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg386612
hg196612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv587e199
Supporting Variantsessv6039305
SamplesHG00578
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678588
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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