A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13194616



Internal ID2356356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48184683..48211977hg38UCSC Ensembl
Innerchr8:48184683..48211977hg38UCSC Ensembl
Outerchr8:48184183..48212477hg38UCSC Ensembl
chr8:49097243..49124537hg19UCSC Ensembl
Innerchr8:49097243..49124537hg19UCSC Ensembl
Outerchr8:49096743..49125037hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3827295
hg1927295
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617117
Supporting Variants
SamplesHG02087
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13194616
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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