A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792864



Internal ID18819715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4967386..5060625hg38UCSC Ensembl
Innerchr16:5017387..5110626hg19UCSC Ensembl
Innerchr16:4957388..5050627hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3893240
hg1993240
hg1893240
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892762
Supporting Variants
Samples
Known GenesC16orf89, NAGPA, NAGPA-AS1, SEC14L5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=35
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792864
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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