A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788620



Internal ID18827559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195769258..195874707hg38UCSC Ensembl
Innerchr3:195496129..195601578hg19UCSC Ensembl
Innerchr3:196981763..197085975hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38105450
hg19105450
hg18104213
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893850
Supporting Variants
Samples
Known GenesMUC4, TNK2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=30
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788620
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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