A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307560



Internal ID14807822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30019486..30019487hg38UCSC Ensembl
Innerchr22:30019464..30019509hg38UCSC Ensembl
Outerchr22:30019463..30019510hg38UCSC Ensembl
chr22:30415475..30415476hg19UCSC Ensembl
Innerchr22:30415453..30415498hg19UCSC Ensembl
Outerchr22:30415452..30415499hg19UCSC Ensembl
chr22:28745475..28745476hg18UCSC Ensembl
Innerchr22:28745498..28745453hg18UCSC Ensembl
Outerchr22:28745452..28745499hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383379
hg193379
hg183379
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7768431
SamplesNA12872
Known GenesMTMR3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307560
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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