A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2650890



Internal ID8714448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:96777060..96778710hg38UCSC Ensembl
Outerchr10:98536817..98538467hg19UCSC Ensembl
Outerchr10:98526807..98528457hg18UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg381651
hg191651
hg181651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5348762
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)esv2650890
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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