A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3328287



Internal ID15175272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18777339..18778537hg38UCSC Ensembl
Innerchr22:18777537..18778339hg38UCSC Ensembl
Outerchr22:18776339..18779537hg38UCSC Ensembl
chr22:18764852..18766050hg19UCSC Ensembl
Innerchr22:18765050..18765852hg19UCSC Ensembl
Outerchr22:18763852..18767050hg19UCSC Ensembl
chr22:17144852..17146050hg18UCSC Ensembl
Innerchr22:17145852..17145050hg18UCSC Ensembl
Outerchr22:17143852..17147050hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693074
SamplesNA12878
Known GenesGGT3P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3328287
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