A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2500618



Internal ID8564177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:55083622..55091623hg38UCSC Ensembl
Outerchr5:54379450..54387451hg19UCSC Ensembl
Outerchr5:54415207..54423208hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg388002
hg198002
hg188002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5365647
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)esv2500618
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