A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5389173



Internal ID8480908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:32264692..32266029hg38UCSC Ensembl
Outerchr11:32286238..32287575hg19UCSC Ensembl
Outerchr11:32242814..32244151hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg381338
hg191338
hg181338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2441658
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)essv5389173
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