A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788375



Internal ID18824544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84014717..84091665hg38UCSC Ensembl
Innerchr16:84048322..84125270hg19UCSC Ensembl
Innerchr16:82605823..82682771hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3876949
hg1976949
hg1876949
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892924
Supporting Variants
Samples
Known GenesMBTPS1, SLC38A8
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=37
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788375
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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