A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5181677



Internal ID8273412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124015015..124023568hg38UCSC Ensembl
Outerchr11:123885722..123894275hg19UCSC Ensembl
Outerchr11:123390932..123399485hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg388554
hg198554
hg188554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2582148
Supporting Variants
SamplesNA18507
Known GenesOR10G4, OR10G9
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)essv5181677
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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