A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5798767



Internal ID9556365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8126426..8129162hg38UCSC Ensembl
chr19:8191310..8194046hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382737
hg192737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670077
Supporting Variants
SamplesNA19088
Known GenesFBN3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5798767
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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