A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303039



Internal ID14803301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33565605..33565711hg38UCSC Ensembl
Innerchr22:33565658..33565658hg38UCSC Ensembl
Outerchr22:33565505..33565811hg38UCSC Ensembl
chr22:33961591..33961697hg19UCSC Ensembl
Innerchr22:33961644..33961644hg19UCSC Ensembl
Outerchr22:33961491..33961797hg19UCSC Ensembl
chr22:32291591..32291697hg18UCSC Ensembl
Innerchr22:32291644..32291644hg18UCSC Ensembl
Outerchr22:32291491..32291797hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38107
hg19107
hg18107
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2610e59
Supporting Variantsessv7736569, essv7738987, essv7732780, essv7734792, essv7732808, essv7734523, essv7733250, essv7735454, essv7731870, essv7739166, essv7733478, essv7737943, essv7733955, essv7739017, essv7738091, essv7734970, essv7735256, essv7738753, essv7736713, essv7736881, essv7733749
SamplesNA11995, NA18861, NA10851, NA12004, NA19005, NA12891, NA18547, NA18916, NA19138, NA12156, NA19238, NA12044, NA11993, NA18951, NA12878, NA18956, NA12892, NA18542, NA12749, NA12006, NA18965
Known GenesLARGE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303039
Frequency
Sample Size185
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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