A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2529193



Internal ID8592751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:100910099..100911140hg38UCSC Ensembl
Outerchr11:100780830..100781871hg19UCSC Ensembl
Outerchr11:100286040..100287081hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38166
hg19166
hg18166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5174499
SamplesNA18507
Known GenesARHGAP42
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)esv2529193
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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