A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789005



Internal ID18813365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69998055..70107584hg38UCSC Ensembl
Innerchr16:70031958..70141487hg19UCSC Ensembl
Innerchr16:68589459..68698988hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38109530
hg19109530
hg18109530
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, PDXDC2P
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789005
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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