A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893284



Internal ID19184104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8119016..8595024hg38UCSC Ensembl
Outerchr20:8119016..8595024hg38UCSC Ensembl
Innerchr20:8099663..8575671hg19UCSC Ensembl
Outerchr20:8099663..8575671hg19UCSC Ensembl
Innerchr20:8047663..8523671hg18UCSC Ensembl
Outerchr20:8047663..8523671hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38476009
hg19476009
hg18476009
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790899
Samples
Known GenesPLCB1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893284
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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