A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665673



Internal ID9585093
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6213214, essv5962320
SamplesHG00613, NA18532
Known GenesPLD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665673
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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