A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054814



Internal ID6056630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40447031..40449320hg38UCSC Ensembl
Innerchr19:40447031..40449320hg38UCSC Ensembl
Outerchr19:40446745..40449573hg38UCSC Ensembl
chr19:40952938..40955227hg19UCSC Ensembl
Innerchr19:40952938..40955227hg19UCSC Ensembl
Outerchr19:40952652..40955480hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382290
hg192290
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644348
Supporting Variants
SamplesHG00478
Known GenesBLVRB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054814
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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