A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5192021



Internal ID8283756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:13015794..13016918hg38UCSC Ensembl
Outerchr11:13037341..13038465hg19UCSC Ensembl
Outerchr11:12993917..12995041hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38164
hg19164
hg18164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2596863
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)essv5192021
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer