A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664951



Internal ID9931056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48680400..48703346hg38UCSC Ensembl
chr19:49183657..49206603hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3822947
hg1922947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5672468, essv5923224, essv5487735, essv6405750
SamplesHG01462, NA19002, NA19059, NA18941
Known GenesFUT2, SEC1P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664951
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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