A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678511



Internal ID9944616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22583319..22584648hg38UCSC Ensembl
chr14:23052224..23053553hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381330
hg191330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5827617, essv5953971, essv5697220, essv6117686, essv5842911, essv6578889
SamplesNA20814, NA20589, NA20513, NA20538, HG00111, NA19474
Known GenesDAD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678511
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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