A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5274756



Internal ID8366491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:16756481..16757952hg38UCSC Ensembl
Outerchr11:16778028..16779499hg19UCSC Ensembl
Outerchr11:16734604..16736075hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381472
hg191472
hg181472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2571561
Supporting Variants
SamplesNA18507
Known GenesC11orf58
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)essv5274756
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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