A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7733950



Internal ID14554469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20470574..20470994hg38UCSC Ensembl
Outerchr12:20470374..20471194hg38UCSC Ensembl
Innerchr12:20623508..20623928hg19UCSC Ensembl
Outerchr12:20623308..20624128hg19UCSC Ensembl
Innerchr12:20514775..20515195hg18UCSC Ensembl
Outerchr12:20514575..20515395hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38821
hg19821
hg18821
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303077
Supporting Variants
SamplesNA19138
Known GenesPDE3A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7733950
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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