A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15981942



Internal ID5983758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4549119..4549899hg38UCSC Ensembl
Innerchr19:4549164..4549854hg38UCSC Ensembl
Outerchr19:4549074..4549944hg38UCSC Ensembl
chr19:4549131..4549911hg19UCSC Ensembl
Innerchr19:4549176..4549866hg19UCSC Ensembl
Outerchr19:4549086..4549956hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643502
Supporting Variants
SamplesHG00256
Known GenesSEMA6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15981942
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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