A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16059398



Internal ID580944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43155473..43347033hg38UCSC Ensembl
Innerchr19:43155973..43346533hg38UCSC Ensembl
Outerchr19:43154473..43348033hg38UCSC Ensembl
chr19:43659625..43851185hg19UCSC Ensembl
Innerchr19:43660125..43850685hg19UCSC Ensembl
Outerchr19:43658625..43852185hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38191561
hg19191561
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644450
Supporting Variants
SamplesHG00255
Known GenesLOC284344, PSG4, PSG5, PSG9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16059398
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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