A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2429813



Internal ID8493371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:87307656..87308977hg38UCSC Ensembl
Outerchr11:87018698..87020019hg19UCSC Ensembl
Outerchr11:86696346..86697667hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg381322
hg191322
hg181322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5367751
SamplesNA18507
Known GenesTMEM135
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)esv2429813
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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