A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788925



Internal ID18826818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:76153094..76478682hg38UCSC Ensembl
Innerchr16:76186992..76512579hg19UCSC Ensembl
Innerchr16:74744493..75070080hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38325589
hg19325588
hg18325588
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892895
Supporting Variants
Samples
Known GenesCNTNAP4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=86
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788925
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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