A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302622



Internal ID14802884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14101372..14101563hg38UCSC Ensembl
Innerchr8:14101467..14101467hg38UCSC Ensembl
Outerchr8:14101272..14101663hg38UCSC Ensembl
chr8:13958881..13959072hg19UCSC Ensembl
Innerchr8:13958976..13958976hg19UCSC Ensembl
Outerchr8:13958781..13959172hg19UCSC Ensembl
chr8:14003252..14003443hg18UCSC Ensembl
Innerchr8:14003347..14003347hg18UCSC Ensembl
Outerchr8:14003152..14003543hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38192
hg19192
hg18192
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4092e59
Supporting Variantsessv7731122, essv7731485
SamplesNA12891, NA12878
Known GenesSGCZ
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302622
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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