A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670391



Internal ID9936496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46666742..46671531hg38UCSC Ensembl
chr19:47169999..47174788hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg384790
hg194790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6582523
SamplesHG00367
Known GenesDACT3-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670391
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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