A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16090294



Internal ID6092110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53828523..53853742hg38UCSC Ensembl
Innerchr19:53828586..53853680hg38UCSC Ensembl
Outerchr19:53828461..53853805hg38UCSC Ensembl
chr19:54331777..54356996hg19UCSC Ensembl
Innerchr19:54331840..54356934hg19UCSC Ensembl
Outerchr19:54331715..54357059hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3825220
hg1925220
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644774
Supporting Variants
SamplesHG02146
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16090294
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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