A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16199698



Internal ID1705172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51840641..51847199hg38UCSC Ensembl
Innerchr20:51840791..51847049hg38UCSC Ensembl
Outerchr20:51840491..51847349hg38UCSC Ensembl
chr20:50457180..50463738hg19UCSC Ensembl
Innerchr20:50457330..50463588hg19UCSC Ensembl
Outerchr20:50457030..50463888hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg386559
hg196559
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646071
Supporting Variants
SamplesHG01586
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16199698
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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