A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2508614



Internal ID8225486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:6485298..6486763hg38UCSC Ensembl
Outerchr16:6535299..6536764hg19UCSC Ensembl
Outerchr16:6475300..6476765hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg381466
hg191466
hg181466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5171237
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)esv2508614
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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