A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676382



Internal ID9942487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40838679..40869313hg38UCSC Ensembl
chr19:41344584..41375218hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3830635
hg1930635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv642e199
Supporting Variantsessv6165604, essv5888278, essv6588116, essv6065210, essv6277081, essv5967365, essv6366305
SamplesHG01066, NA18616, NA19404, HG00325, HG00328, HG01390, NA19676
Known GenesCYP2A6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676382
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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