A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5268939



Internal ID8013988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:134280978..134345193hg38UCSC Ensembl
Outerchr11:134150872..134215087hg19UCSC Ensembl
Outerchr11:133656082..133720297hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3864216
hg1964216
hg1864216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2475970
Supporting Variants
SamplesNA18507
Known GenesGLB1L2, GLB1L3
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)essv5268939
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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