A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2532024



Internal ID8248897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45080216..45080570hg38UCSC Ensembl
Outerchr22:45476097..45476451hg19UCSC Ensembl
Outerchr22:43854761..43855115hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38922
hg19922
hg18922
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5314981
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)esv2532024
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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