A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2569789



Internal ID8286661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:77617833..77619407hg38UCSC Ensembl
Outerchr15:77910175..77911749hg19UCSC Ensembl
Outerchr15:75697230..75698804hg18UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg381575
hg191575
hg181575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5266481
SamplesNA18507
Known GenesLINGO1
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)esv2569789
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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