A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2612935



Internal ID1643475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120243440..120244559hg38UCSC Ensembl
Outerchr11:120114149..120115268hg19UCSC Ensembl
Outerchr11:119619359..119620478hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38286
hg19286
hg18286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5203984
SamplesNA18507
Known GenesPOU2F3
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)esv2612935
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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