A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676148



Internal ID9942253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38476836..38483668hg38UCSC Ensembl
chr14:38946040..38952872hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg386833
hg196833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6375311
SamplesNA19009
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676148
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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