A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792871



Internal ID19177423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22620078..22766456hg38UCSC Ensembl
Innerchr16:22631399..22777777hg19UCSC Ensembl
Innerchr16:22538900..22685278hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38146379
hg19146379
hg18146379
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892816
Supporting Variants
Samples
Known GenesMIR548AA2, MIR548D2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=30
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792871
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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