A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306011



Internal ID15152959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43258412..43258413hg38UCSC Ensembl
Innerchr22:43258390..43258435hg38UCSC Ensembl
Outerchr22:43258389..43258436hg38UCSC Ensembl
chr22:43654418..43654419hg19UCSC Ensembl
Innerchr22:43654396..43654441hg19UCSC Ensembl
Outerchr22:43654395..43654442hg19UCSC Ensembl
chr22:41984362..41984363hg18UCSC Ensembl
Innerchr22:41984385..41984340hg18UCSC Ensembl
Outerchr22:41984339..41984386hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381908
hg191908
hg181908
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766043
SamplesNA12873
Known GenesSCUBE1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306011
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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