A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2459110



Internal ID8522668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76376078..76377260hg38UCSC Ensembl
Outerchr11:76087122..76088304hg19UCSC Ensembl
Outerchr11:75764770..75765952hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38144
hg19144
hg18144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5292952
SamplesNA18507
Known GenesPRKRIR
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)esv2459110
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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