A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15530919



Internal ID353391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:79705289..79710644hg38UCSC Ensembl
Innerchr16:79705301..79710633hg38UCSC Ensembl
Outerchr16:79705278..79710656hg38UCSC Ensembl
chr16:79739186..79744541hg19UCSC Ensembl
Innerchr16:79739198..79744530hg19UCSC Ensembl
Outerchr16:79739175..79744553hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg385356
hg195356
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639247
Supporting Variants
SamplesHG00099
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15530919
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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