A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2584634



Internal ID8648192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68264189..68264811hg38UCSC Ensembl
Outerchr11:68031657..68032279hg19UCSC Ensembl
Outerchr11:67788233..67788855hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38648
hg19648
hg18648
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5323439
SamplesNA18507
Known GenesC11orf24
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)esv2584634
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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