A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892142



Internal ID19186538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11328123..11367487hg38UCSC Ensembl
Outerchr12:11323791..11367487hg38UCSC Ensembl
Innerchr12:11481057..11520421hg19UCSC Ensembl
Outerchr12:11476725..11520421hg19UCSC Ensembl
Innerchr12:11372324..11411688hg18UCSC Ensembl
Outerchr12:11367992..11411688hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3843697
hg1943697
hg1843697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792468, essv25790349, essv25789397, essv25792556
Samples
Known GenesPRB1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892142
Frequency
Sample Size3017
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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