A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2444502



Internal ID8161374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6237758..6239182hg38UCSC Ensembl
Outerchr16:6287759..6289183hg19UCSC Ensembl
Outerchr16:6227760..6229184hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381425
hg191425
hg181425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5288117
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)esv2444502
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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