A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666003



Internal ID9585422
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5946451, essv5796520
SamplesNA19445, NA19439
Known GenesPLA2G4C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666003
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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