A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669314



Internal ID9935419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9815678..9817679hg38UCSC Ensembl
Outerchr19:9815521..9817832hg38UCSC Ensembl
Innerchr19:9926354..9928355hg19UCSC Ensembl
Outerchr19:9926197..9928508hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382312
hg192312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5967525, essv5558415, essv5623700
SamplesNA19381, NA19453, NA19444
Known GenesFBXL12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669314
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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