A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643502



Internal ID6683573
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15981942
SamplesHG00256
Known GenesSEMA6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643502
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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