A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16089801



Internal ID6311343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53414810..53497465hg38UCSC Ensembl
Innerchr19:53414960..53497315hg38UCSC Ensembl
Outerchr19:53414660..53497615hg38UCSC Ensembl
chr19:53918063..54000719hg19UCSC Ensembl
Innerchr19:53918213..54000569hg19UCSC Ensembl
Outerchr19:53917913..54000869hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3882656
hg1982657
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644756
Supporting Variants
SamplesNA19913
Known GenesTPM3P9, ZNF761, ZNF813
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16089801
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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