A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788421



Internal ID18835522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247894963..248795772hg38UCSC Ensembl
Innerchr1:248058265..249089971hg19UCSC Ensembl
Innerchr1:246124888..247056594hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38900810
hg191031707
hg18931707
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891415
Supporting Variants
Samples
Known GenesLYPD8, OR14C36, OR14I1, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=127
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788421
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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