A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596160



Internal ID6636433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52528291..52540644hg38UCSC Ensembl
chr3:52562307..52574660hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3812354
hg1912354
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11013770
SamplesHG02144
Known GenesNT5DC2, SMIM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596160
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