A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198987



Internal ID1721462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49974623..49975307hg38UCSC Ensembl
Innerchr20:49974693..49975238hg38UCSC Ensembl
Outerchr20:49974554..49975377hg38UCSC Ensembl
chr20:48591160..48591844hg19UCSC Ensembl
Innerchr20:48591230..48591775hg19UCSC Ensembl
Outerchr20:48591091..48591914hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38685
hg19685
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646038
Supporting Variants
SamplesHG01599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198987
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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