A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677447



Internal ID9943552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40838625..40869242hg38UCSC Ensembl
chr19:41344530..41375147hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3830618
hg1930618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv642e199
Supporting Variantsessv6311060, essv5984573, essv5457141
SamplesHG01356, HG00242, HG01134
Known GenesCYP2A6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677447
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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