A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5408030



Internal ID8979311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8092083..8093528hg38UCSC Ensembl
chr19:8156967..8158412hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381446
hg191446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667277
Supporting Variants
SamplesHG00560
Known GenesFBN3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5408030
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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