A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3372465



Internal ID15219441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50529888..50529908hg38UCSC Ensembl
Innerchr8:50529892..50529902hg38UCSC Ensembl
Outerchr8:50529872..50529922hg38UCSC Ensembl
chr8:51442448..51442468hg19UCSC Ensembl
Innerchr8:51442452..51442462hg19UCSC Ensembl
Outerchr8:51442432..51442482hg19UCSC Ensembl
chr8:51605001..51605021hg18UCSC Ensembl
Innerchr8:51605015..51605005hg18UCSC Ensembl
Outerchr8:51604985..51605035hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8939861, essv8939862, essv8939855, essv8939851, essv8939853, essv8939863, essv8939854, essv8939858, essv8939856, essv8939864, essv8939860, essv8939859, essv8939852
SamplesNA18563, NA18944, NA18940, NA18550, NA11992, NA07347, NA18638, NA10847, NA18956, NA18573, NA18532, NA18576, NA06986
Known GenesSNTG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3372465
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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