A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788917



Internal ID19173638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:49846803..50209463hg38UCSC Ensembl
Innerchr16:49880714..50243374hg19UCSC Ensembl
Innerchr16:48438215..48800875hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38362661
hg19362661
hg18362661
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892857
Supporting Variants
Samples
Known GenesCNEP1R1, HEATR3, PAPD5, ZNF423
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=47
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788917
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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