A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678040



Internal ID9944145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:61579364..61585655hg38UCSC Ensembl
Outerchr16:61579207..61585808hg38UCSC Ensembl
Innerchr16:61613268..61619559hg19UCSC Ensembl
Outerchr16:61613111..61619712hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg386602
hg196602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5790043
SamplesHG00174
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678040
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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