A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809193



Internal ID13302435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47431207..47431270hg38UCSC Ensembl
Innerchr3:47431206..47431271hg38UCSC Ensembl
Outerchr3:47431097..47431390hg38UCSC Ensembl
chr3:47472697..47472760hg19UCSC Ensembl
Innerchr3:47472696..47472761hg19UCSC Ensembl
Outerchr3:47472587..47472880hg19UCSC Ensembl
chr3:47447701..47447764hg18UCSC Ensembl
Innerchr3:47447765..47447700hg18UCSC Ensembl
Outerchr3:47447591..47447884hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380699
Supporting Variants
SamplesNA12878
Known GenesSCAP
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809193
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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