A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331654



Internal ID15178643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29996705..29996734hg38UCSC Ensembl
Innerchr22:29996707..29996732hg38UCSC Ensembl
Outerchr22:29996703..29996736hg38UCSC Ensembl
chr22:30392694..30392723hg19UCSC Ensembl
Innerchr22:30392696..30392721hg19UCSC Ensembl
Outerchr22:30392692..30392725hg19UCSC Ensembl
chr22:28722694..28722723hg18UCSC Ensembl
Innerchr22:28722696..28722721hg18UCSC Ensembl
Outerchr22:28722692..28722725hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866246
SamplesNA12005
Known GenesMTMR3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331654
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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