A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303776



Internal ID14804038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19373932..19373933hg38UCSC Ensembl
Innerchr22:19373910..19373955hg38UCSC Ensembl
Outerchr22:19373909..19373956hg38UCSC Ensembl
chr22:19361455..19361456hg19UCSC Ensembl
Innerchr22:19361433..19361478hg19UCSC Ensembl
Outerchr22:19361432..19361479hg19UCSC Ensembl
chr22:17741455..17741456hg18UCSC Ensembl
Innerchr22:17741478..17741433hg18UCSC Ensembl
Outerchr22:17741432..17741479hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38113
hg19113
hg18113
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7769257, essv7765017, essv7763458, essv7766507, essv7765522
SamplesNA12249, NA07347, NA12814, NA12812, NA12045
Known GenesHIRA
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303776
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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