A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1397e214



Internal ID22757291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50352239..50373358hg38UCSC Ensembl
chr8:51264799..51285918hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3821120
hg1921120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3617170, esv3617169
SamplesNA18602, HG02756
Known GenesSNTG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1397e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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