A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16109516



Internal ID792139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1033147..1036711hg38UCSC Ensembl
Innerchr20:1033223..1036636hg38UCSC Ensembl
Outerchr20:1033072..1036787hg38UCSC Ensembl
chr20:1013790..1017354hg19UCSC Ensembl
Innerchr20:1013866..1017279hg19UCSC Ensembl
Outerchr20:1013715..1017430hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383565
hg193565
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644969
Supporting Variants
SamplesHG00375
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16109516
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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