A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891415



Internal ID18839125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247894963..248415321hg38UCSC Ensembl
Outerchr1:247876411..248795772hg38UCSC Ensembl
Innerchr1:248058265..248578622hg19UCSC Ensembl
Outerchr1:248039713..249089971hg19UCSC Ensembl
Innerchr1:246124888..246645245hg18UCSC Ensembl
Outerchr1:246106336..247056594hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38919362
hg191050259
hg18950259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788095, essv25788421
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, TRIM58
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891415
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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