A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669487



Internal ID9935592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48249132..48255140hg38UCSC Ensembl
chr19:48752389..48758397hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386009
hg196009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5910655
SamplesNA18977
Known GenesCARD8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669487
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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