A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16180133



Internal ID3741910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37487426..37488377hg38UCSC Ensembl
Innerchr20:37487426..37488377hg38UCSC Ensembl
Outerchr20:37487426..37488377hg38UCSC Ensembl
chr20:36115828..36116779hg19UCSC Ensembl
Innerchr20:36115828..36116779hg19UCSC Ensembl
Outerchr20:36115828..36116779hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38952
hg19952
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645761
Supporting Variants
SamplesHG03372
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16180133
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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