A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2558081



Internal ID8274954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:26771359..26774452hg38UCSC Ensembl
Outerchr22:27167322..27170415hg19UCSC Ensembl
Outerchr22:25497322..25500415hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg383094
hg193094
hg183094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5358062
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)esv2558081
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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