A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5331214



Internal ID8422949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:82748718..82752734hg38UCSC Ensembl
Outerchr11:82459760..82463776hg19UCSC Ensembl
Outerchr11:82137408..82141424hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg384017
hg194017
hg184017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2518812
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)essv5331214
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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