A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398374



Internal ID15245337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72299511..72301909hg38UCSC Ensembl
Innerchr3:72300511..72300909hg38UCSC Ensembl
Outerchr3:72298511..72302909hg38UCSC Ensembl
chr3:72348662..72351060hg19UCSC Ensembl
Innerchr3:72349662..72350060hg19UCSC Ensembl
Outerchr3:72347662..72352060hg19UCSC Ensembl
chr3:72431352..72433750hg18UCSC Ensembl
Innerchr3:72432352..72432750hg18UCSC Ensembl
Outerchr3:72430352..72434750hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694121
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398374
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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