A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447339



Internal ID15294289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72301373..72301381hg38UCSC Ensembl
Innerchr3:72301356..72301398hg38UCSC Ensembl
Outerchr3:72301348..72301406hg38UCSC Ensembl
chr3:72350524..72350532hg19UCSC Ensembl
Innerchr3:72350507..72350549hg19UCSC Ensembl
Outerchr3:72350499..72350557hg19UCSC Ensembl
chr3:72433214..72433222hg18UCSC Ensembl
Innerchr3:72433239..72433197hg18UCSC Ensembl
Outerchr3:72433189..72433247hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864152
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447339
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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