A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643603



Internal ID7030362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8126371..8129104hg38UCSC Ensembl
Innerchr19:8126404..8129072hg38UCSC Ensembl
Outerchr19:8126339..8129137hg38UCSC Ensembl
chr19:8191255..8193988hg19UCSC Ensembl
Innerchr19:8191288..8193956hg19UCSC Ensembl
Outerchr19:8191223..8194021hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382734
hg192734
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15987727, essv15987726
SamplesNA19088, NA18956
Known GenesFBN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643603
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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