A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597960



Internal ID6638226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:140441068..140556300hg38UCSC Ensembl
chr3:140159910..140275142hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38115233
hg19115233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11161229, essv11161228
SamplesNA11994, HG03120
Known GenesCLSTN2, CLSTN2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597960
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