A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5962320



Internal ID8939723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40355389..40358343hg38UCSC Ensembl
chr19:40861296..40864250hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382955
hg192955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665673
Supporting Variants
SamplesNA18532
Known GenesPLD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5962320
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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