A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5316792



Internal ID8408527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48604879..48605636hg38UCSC Ensembl
Outerchr22:49000691..49001448hg19UCSC Ensembl
Outerchr22:47387254..47388011hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38559
hg19559
hg18559
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2619129
Supporting Variants
SamplesNA18507
Known GenesFAM19A5
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)essv5316792
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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