A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5359813



Internal ID8451548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:20894583..20896117hg38UCSC Ensembl
Outerchr11:20916129..20917663hg19UCSC Ensembl
Outerchr11:20872705..20874239hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381535
hg191535
hg181535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2602008
Supporting Variants
SamplesNA18507
Known GenesNELL1
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)essv5359813
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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