A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2447763



Internal ID8511321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:126231949..126233495hg38UCSC Ensembl
Outerchr11:126101844..126103390hg19UCSC Ensembl
Outerchr11:125607054..125608600hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381547
hg191547
hg181547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5221099
SamplesNA18507
Known GenesFAM118B
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)esv2447763
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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