A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5257358



Internal ID8349093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48667530..48669416hg38UCSC Ensembl
Outerchr22:49063342..49065228hg19UCSC Ensembl
Outerchr22:47449778..47451664hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg381887
hg191887
hg181887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2462207
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)essv5257358
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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