A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669583



Internal ID9589002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46849587..46850992hg38UCSC Ensembl
Outerchr18:46849430..46851145hg38UCSC Ensembl
Innerchr18:44429550..44430955hg19UCSC Ensembl
Outerchr18:44429393..44431108hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381716
hg191716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5572348, essv6338379
SamplesNA18952, NA18549
Known GenesPIAS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669583
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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