A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10899184



Internal ID901000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2122694..2182386hg38UCSC Ensembl
chr3:2164378..2224070hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3859693
hg1959693
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595013
Supporting Variants
SamplesHG04002
Known GenesCNTN4, CNTN4-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10899184
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