A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5298587



Internal ID8390322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99429771..99430719hg38UCSC Ensembl
Outerchr13:100082025..100082973hg19UCSC Ensembl
Outerchr13:98880026..98880974hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38318
hg19318
hg18318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2637065
Supporting Variants
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)essv5298587
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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