A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671487



Internal ID9590906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36871381..36909754hg38UCSC Ensembl
Outerchr18:36871344..36909804hg38UCSC Ensembl
Innerchr18:34451344..34489717hg19UCSC Ensembl
Outerchr18:34451307..34489767hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3838461
hg1938461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5447959
SamplesHG00375
Known GenesKIAA1328
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671487
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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