A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16201860



Internal ID4640119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52496024..52497736hg38UCSC Ensembl
Innerchr20:52496034..52497727hg38UCSC Ensembl
Outerchr20:52496015..52497746hg38UCSC Ensembl
chr20:51112563..51114275hg19UCSC Ensembl
Innerchr20:51112573..51114266hg19UCSC Ensembl
Outerchr20:51112554..51114285hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381713
hg191713
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646091
Supporting Variants
SamplesHG04171
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16201860
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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