A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302593



Internal ID14802855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20470446..20471063hg38UCSC Ensembl
Innerchr12:20470546..20470963hg38UCSC Ensembl
Outerchr12:20470346..20471163hg38UCSC Ensembl
chr12:20623380..20623997hg19UCSC Ensembl
Innerchr12:20623480..20623897hg19UCSC Ensembl
Outerchr12:20623280..20624097hg19UCSC Ensembl
chr12:20514647..20515264hg18UCSC Ensembl
Innerchr12:20514747..20515164hg18UCSC Ensembl
Outerchr12:20514547..20515364hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38618
hg19618
hg18618
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv775e59
Supporting Variantsessv7730934
SamplesNA19238
Known GenesPDE3A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302593
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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