A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2517815



Internal ID8581374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48480306..48481285hg38UCSC Ensembl
Outerchr16:48514217..48515196hg19UCSC Ensembl
Outerchr16:47071718..47072697hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38257
hg19257
hg18257
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5328297
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)esv2517815
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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