A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2501942



Internal ID8218814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89842998..89844048hg38UCSC Ensembl
Outerchr16:89909406..89910456hg19UCSC Ensembl
Outerchr16:88436907..88437957hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38381
hg19381
hg18381
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5273745
SamplesNA18507
Known GenesSPIRE2
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)esv2501942
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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