A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5946451



Internal ID8923854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48054584..48063170hg38UCSC Ensembl
Outerchr19:48054427..48063323hg38UCSC Ensembl
Innerchr19:48557841..48566427hg19UCSC Ensembl
Outerchr19:48557684..48566580hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg388897
hg198897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666003
Supporting Variants
SamplesNA19439
Known GenesPLA2G4C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5946451
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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