A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16152142



Internal ID5099754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16764335..16767659hg38UCSC Ensembl
Innerchr20:16764339..16767656hg38UCSC Ensembl
Outerchr20:16764332..16767663hg38UCSC Ensembl
chr20:16744980..16748304hg19UCSC Ensembl
Innerchr20:16744984..16748301hg19UCSC Ensembl
Outerchr20:16744977..16748308hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg383325
hg193325
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645415
Supporting Variants
SamplesNA18552
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16152142
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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