A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16064852



Internal ID2538404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44606622..44610197hg38UCSC Ensembl
Innerchr19:44606657..44610163hg38UCSC Ensembl
Outerchr19:44606588..44610232hg38UCSC Ensembl
chr19:45109939..45113515hg19UCSC Ensembl
Innerchr19:45109974..45113481hg19UCSC Ensembl
Outerchr19:45109905..45113550hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg383576
hg193577
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644490
Supporting Variants
SamplesHG02255
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16064852
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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