A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6302280



Internal ID9286042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32552637..32559659hg38UCSC Ensembl
Outerchr18:32552600..32559709hg38UCSC Ensembl
Innerchr18:30132600..30139622hg19UCSC Ensembl
Outerchr18:30132563..30139672hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg387110
hg197110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659294
Supporting Variants
SamplesNA12763
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6302280
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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