A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2581413



Internal ID8298285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7175869..7176886hg38UCSC Ensembl
Outerchr16:7225870..7226887hg19UCSC Ensembl
Outerchr16:7165871..7166888hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38176
hg19176
hg18176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5218833
SamplesNA18507
Known GenesRBFOX1
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)esv2581413
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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