A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788095



Internal ID18822525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247876411..248415321hg38UCSC Ensembl
Innerchr1:248039713..248578622hg19UCSC Ensembl
Innerchr1:246106336..246645245hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38538911
hg19538910
hg18538910
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891415
Supporting Variants
Samples
Known GenesOR14C36, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T12, OR2T33, OR2T4, OR2T6, OR2T8, OR2W3, TRIM58
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=104
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788095
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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