A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5169653



Internal ID8261388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:9916231..9918855hg38UCSC Ensembl
Outerchr11:9937778..9940402hg19UCSC Ensembl
Outerchr11:9894354..9896978hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382625
hg192625
hg182625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2632556
Supporting Variants
SamplesNA18507
Known GenesSBF2
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)essv5169653
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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