A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16134020



Internal ID5686214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:7971350..7974849hg38UCSC Ensembl
Innerchr20:7971350..7974849hg38UCSC Ensembl
Outerchr20:7970850..7975349hg38UCSC Ensembl
chr20:7951997..7955496hg19UCSC Ensembl
Innerchr20:7951997..7955496hg19UCSC Ensembl
Outerchr20:7951497..7955996hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645155
Supporting Variants
SamplesNA19083
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16134020
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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