A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5249242



Internal ID7994291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17800862..17802402hg38UCSC Ensembl
Outerchr22:18283628..18285168hg19UCSC Ensembl
Outerchr22:16663628..16665168hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381541
hg191541
hg181541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2493326
Supporting Variants
SamplesNA18507
Known GenesMICAL3
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)essv5249242
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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