A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669769



Internal ID9589188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3119358..3120987hg38UCSC Ensembl
chr19:3119356..3120985hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381630
hg191630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6136018, essv6466216, essv5542481, essv5558028, essv6335073, essv6052747, essv6079772, essv5548282, essv5698573
SamplesNA18486, NA20507, NA19381, NA19382, HG01095, NA18871, HG01190, NA19711, NA19213
Known GenesGNA11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669769
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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