A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5172127



Internal ID8263862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120328476..120329010hg38UCSC Ensembl
Outerchr11:120199185..120199719hg19UCSC Ensembl
Outerchr11:119704395..119704929hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38482
hg19482
hg18482
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2457390
Supporting Variants
SamplesNA18507
Known GenesTMEM136
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)essv5172127
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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