A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353629



Internal ID15200610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16366441..16368239hg38UCSC Ensembl
Innerchr3:16367239..16367441hg38UCSC Ensembl
Outerchr3:16365441..16369239hg38UCSC Ensembl
chr3:16407948..16409746hg19UCSC Ensembl
Innerchr3:16408746..16408948hg19UCSC Ensembl
Outerchr3:16406948..16410746hg19UCSC Ensembl
chr3:16382952..16384750hg18UCSC Ensembl
Innerchr3:16383952..16383750hg18UCSC Ensembl
Outerchr3:16381952..16385750hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693873
SamplesNA19239
Known GenesRFTN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353629
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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