A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893589



Internal ID18837723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:251309..275462hg38UCSC Ensembl
Outerchr3:251309..275462hg38UCSC Ensembl
Innerchr3:292992..317145hg19UCSC Ensembl
Outerchr3:292992..317145hg19UCSC Ensembl
Innerchr3:267992..292145hg18UCSC Ensembl
Outerchr3:267992..292145hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3824154
hg1924154
hg1824154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788698
Samples
Known GenesCHL1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893589
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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