A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678167



Internal ID9944272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:48639448..48641073hg38UCSC Ensembl
Outerchr16:48639291..48641226hg38UCSC Ensembl
Innerchr16:48673359..48674984hg19UCSC Ensembl
Outerchr16:48673202..48675137hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381936
hg191936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5452801, essv6219482
SamplesNA12273, NA20807
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678167
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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