A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5362698



Internal ID8454433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:39782902..39784166hg38UCSC Ensembl
Outerchr11:39804452..39805716hg19UCSC Ensembl
Outerchr11:39761028..39762292hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg381265
hg191265
hg181265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2635076
Supporting Variants
SamplesNA18507
Known Genes
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)essv5362698
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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