A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598941



Internal ID6639206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184286928..184306834hg38UCSC Ensembl
chr3:184004716..184024622hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3819907
hg1919907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv961e214
Supporting Variantsessv11255067, essv11255068
SamplesHG00672, HG00255
Known GenesECE2, PSMD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598941
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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