A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1025e214



Internal ID22756919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:130790847..130851993hg38UCSC Ensembl
chr4:131712002..131773148hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3861147
hg1961147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3602219, esv3602218
SamplesHG00654, NA12748, NA18757
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1025e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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