A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308015



Internal ID14808277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19287646..19287647hg38UCSC Ensembl
Innerchr22:19287624..19287669hg38UCSC Ensembl
Outerchr22:19287623..19287670hg38UCSC Ensembl
chr22:19275169..19275170hg19UCSC Ensembl
Innerchr22:19275147..19275192hg19UCSC Ensembl
Outerchr22:19275146..19275193hg19UCSC Ensembl
chr22:17655169..17655170hg18UCSC Ensembl
Innerchr22:17655192..17655147hg18UCSC Ensembl
Outerchr22:17655146..17655193hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38225
hg19225
hg18225
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839633
SamplesNA12878
Known GenesCLTCL1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308015
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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