A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3441917



Internal ID14942184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30019492..30019511hg38UCSC Ensembl
Innerchr22:30019488..30019515hg38UCSC Ensembl
Outerchr22:30019469..30019534hg38UCSC Ensembl
chr22:30415481..30415500hg19UCSC Ensembl
Innerchr22:30415477..30415504hg19UCSC Ensembl
Outerchr22:30415458..30415523hg19UCSC Ensembl
chr22:28745481..28745500hg18UCSC Ensembl
Innerchr22:28745504..28745477hg18UCSC Ensembl
Outerchr22:28745458..28745523hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9680868
SamplesNA12872
Known GenesMTMR3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3441917
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer