A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2517640



Internal ID8581198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:15905600..15913048hg38UCSC Ensembl
Outerchr5:15905709..15913157hg19UCSC Ensembl
Outerchr5:15958709..15966157hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg387449
hg197449
hg187449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5374371
SamplesNA18507
Known GenesFBXL7
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)esv2517640
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