A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5337321



Internal ID8429056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69291313..69292176hg38UCSC Ensembl
Outerchr11:69058780..69059643hg19UCSC Ensembl
Outerchr11:68815356..68816219hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38445
hg19445
hg18445
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2565994
Supporting Variants
SamplesNA18507
Known Genes
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)essv5337321
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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