A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891426



Internal ID18839136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248607960..248652887hg38UCSC Ensembl
Outerchr1:248607960..248652887hg38UCSC Ensembl
Innerchr1:248771261..248816188hg19UCSC Ensembl
Outerchr1:248771261..248816188hg19UCSC Ensembl
Innerchr1:246837884..246882811hg18UCSC Ensembl
Outerchr1:246837884..246882811hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3844928
hg1944928
hg1844928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25801143
Samples
Known GenesOR2T11, OR2T27, OR2T35
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891426
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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