A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589483



Internal ID6976811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246563151..246571010hg38UCSC Ensembl
chr1:246726453..246734312hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg387860
hg197860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10370793
SamplesHG00551
Known GenesCNST, TFB2M
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589483
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