A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16121965



Internal ID6123781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3814525..3827525hg38UCSC Ensembl
Innerchr20:3815025..3827025hg38UCSC Ensembl
Outerchr20:3813525..3828525hg38UCSC Ensembl
chr20:3795172..3808172hg19UCSC Ensembl
Innerchr20:3795672..3807672hg19UCSC Ensembl
Outerchr20:3794172..3809172hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3813001
hg1913001
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645050
Supporting Variants
SamplesHG03960
Known GenesAP5S1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16121965
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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