A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2476566



Internal ID8540124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:9393616..9395026hg38UCSC Ensembl
Outerchr16:9487473..9488883hg19UCSC Ensembl
Outerchr16:9394974..9396384hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg381411
hg191411
hg181411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5177694
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2476566
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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