A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999388



Internal ID6735313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2746143..2746143hg38UCSC Ensembl
chr3:2787827..2787827hg19UCSC Ensembl
chr3:2762827..2762827hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3566178
SamplesHuRef
Known GenesCNTN4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999388
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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