A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303077



Internal ID14803339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20470473..20471094hg38UCSC Ensembl
Innerchr12:20470573..20470994hg38UCSC Ensembl
Outerchr12:20470373..20471194hg38UCSC Ensembl
chr12:20623407..20624028hg19UCSC Ensembl
Innerchr12:20623507..20623928hg19UCSC Ensembl
Outerchr12:20623307..20624128hg19UCSC Ensembl
chr12:20514674..20515295hg18UCSC Ensembl
Innerchr12:20514774..20515195hg18UCSC Ensembl
Outerchr12:20514574..20515395hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38622
hg19622
hg18622
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv775e59
Supporting Variantsessv7739121, essv7733950, essv7737862, essv7737183, essv7733488, essv7731966
SamplesNA18870, NA19102, NA19238, NA18504, NA19138, NA19099
Known GenesPDE3A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303077
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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