A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3405393



Internal ID14905669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20470477..20471092hg38UCSC Ensembl
Innerchr12:20470500..20471067hg38UCSC Ensembl
Outerchr12:20470452..20471115hg38UCSC Ensembl
chr12:20623411..20624026hg19UCSC Ensembl
Innerchr12:20623434..20624001hg19UCSC Ensembl
Outerchr12:20623386..20624049hg19UCSC Ensembl
chr12:20514678..20515293hg18UCSC Ensembl
Innerchr12:20514701..20515268hg18UCSC Ensembl
Outerchr12:20514653..20515316hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38616
hg19616
hg18616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670555
SamplesNA19238
Known GenesPDE3A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3405393
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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