A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5311520



Internal ID8056569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19202125..19202720hg38UCSC Ensembl
Outerchr22:19189635..19190230hg19UCSC Ensembl
Outerchr22:17569635..17570230hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38685
hg19685
hg18685
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2532331
Supporting Variants
SamplesNA18507
Known GenesCLTCL1
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)essv5311520
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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