A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1305e214



Internal ID20122728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80401473..80470340hg38UCSC Ensembl
chr7:80030789..80099656hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3868868
hg1968868
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3613858, esv3613859
SamplesHG02658
Known GenesGNAT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1305e214
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