A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2436910



Internal ID8153782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114553128..114561644hg38UCSC Ensembl
Outerchr11:114423850..114432366hg19UCSC Ensembl
Outerchr11:113929060..113937576hg18UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg388517
hg198517
hg188517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5212085
SamplesNA18507
Known GenesNXPE1
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)esv2436910
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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