A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5353632



Internal ID8445367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:10364109..10365527hg38UCSC Ensembl
Outerchr11:10385656..10387074hg19UCSC Ensembl
Outerchr11:10342232..10343650hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381419
hg191419
hg181419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2518130
Supporting Variants
SamplesNA18507
Known GenesCAND1.11
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)essv5353632
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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