A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790220



Internal ID19175751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70015041..70157430hg38UCSC Ensembl
Innerchr16:70048944..70191333hg19UCSC Ensembl
Innerchr16:68606445..68748834hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38142390
hg19142390
hg18142390
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892879
Supporting Variants
Samples
Known GenesMIR1972-1, MIR1972-2, PDPR, PDXDC2P
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790220
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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