A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16100468



Internal ID6102284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55298940..55300405hg38UCSC Ensembl
Innerchr19:55298957..55300388hg38UCSC Ensembl
Outerchr19:55298923..55300422hg38UCSC Ensembl
chr19:55810308..55811773hg19UCSC Ensembl
Innerchr19:55810325..55811756hg19UCSC Ensembl
Outerchr19:55810291..55811790hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381466
hg191466
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644838
Supporting Variants
SamplesHG03114
Known GenesBRSK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16100468
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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