A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5328726



Internal ID8420461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48496929..48498549hg38UCSC Ensembl
Outerchr22:48892741..48894361hg19UCSC Ensembl
Outerchr22:47271405..47273025hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg381621
hg191621
hg181621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2538802
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)essv5328726
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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