A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661469



Internal ID9927574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:4245663..4248299hg38UCSC Ensembl
Outerchr20:4245626..4248349hg38UCSC Ensembl
Innerchr20:4226310..4228946hg19UCSC Ensembl
Outerchr20:4226273..4228996hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382724
hg192724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5408748
SamplesNA18599
Known GenesADRA1D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661469
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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