A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2563878



Internal ID8627437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36730765..36732095hg38UCSC Ensembl
Outerchr22:37126810..37128140hg19UCSC Ensembl
Outerchr22:35456756..35458086hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381331
hg191331
hg181331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5268801
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)esv2563878
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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