A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598986



Internal ID6986034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186178782..186255941hg38UCSC Ensembl
Innerchr3:186178932..186255791hg38UCSC Ensembl
Outerchr3:186178632..186256091hg38UCSC Ensembl
chr3:185896571..185973730hg19UCSC Ensembl
Innerchr3:185896721..185973580hg19UCSC Ensembl
Outerchr3:185896421..185973880hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3877160
hg1977160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11257995
SamplesHG03061
Known GenesDGKG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598986
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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