A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15987727



Internal ID5699155
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643603
Supporting Variants
SamplesNA19088
Known GenesFBN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15987727
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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