A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2452848



Internal ID8516406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40007052..40007789hg38UCSC Ensembl
Outerchr22:40403056..40403793hg19UCSC Ensembl
Outerchr22:38733002..38733739hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38490
hg19490
hg18490
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5278705
SamplesNA18507
Known GenesFAM83F
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)esv2452848
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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