A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893850



Internal ID19184670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195769258..195860385hg38UCSC Ensembl
Outerchr3:195730982..195874707hg38UCSC Ensembl
Innerchr3:195496129..195587256hg19UCSC Ensembl
Outerchr3:195457853..195601578hg19UCSC Ensembl
Innerchr3:196981763..197071653hg18UCSC Ensembl
Outerchr3:196943524..197085975hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38143726
hg19143726
hg18142452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788620, essv25788008
Samples
Known GenesMUC20, MUC4, TNK2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893850
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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