A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16218916



Internal ID6220732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57504125..57505510hg38UCSC Ensembl
Innerchr20:57504125..57505510hg38UCSC Ensembl
Outerchr20:57503834..57505764hg38UCSC Ensembl
chr20:56079181..56080566hg19UCSC Ensembl
Innerchr20:56079181..56080566hg19UCSC Ensembl
Outerchr20:56078890..56080820hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381386
hg191386
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646212
Supporting Variants
SamplesNA20589
Known GenesCTCFL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16218916
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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