A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310500



Internal ID14810765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20251170..20252749hg38UCSC Ensembl
Outerchr22:20251170..20252749hg38UCSC Ensembl
Innerchr22:20238693..20240272hg19UCSC Ensembl
Outerchr22:20238693..20240272hg19UCSC Ensembl
Innerchr22:18620272..18618693hg18UCSC Ensembl
Outerchr22:18618693..18620272hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381234
hg191234
hg181234
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843533
SamplesNA19240
Known GenesRTN4R
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310500
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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