A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668478



Internal ID9934583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103192930..103198265hg38UCSC Ensembl
chr14:103659267..103664602hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg385336
hg195336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5628058, essv5416681, essv5448294, essv6558845, essv5505393, essv5757691
SamplesNA19703, NA19315, NA18499, NA18858, HG00734, NA18505
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668478
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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