A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349849



Internal ID15196831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30427883..30427893hg38UCSC Ensembl
Innerchr3:30427885..30427891hg38UCSC Ensembl
Outerchr3:30427881..30427895hg38UCSC Ensembl
chr3:30469375..30469385hg19UCSC Ensembl
Innerchr3:30469377..30469383hg19UCSC Ensembl
Outerchr3:30469373..30469387hg19UCSC Ensembl
chr3:30444379..30444389hg18UCSC Ensembl
Innerchr3:30444381..30444387hg18UCSC Ensembl
Outerchr3:30444377..30444391hg18UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864116
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349849
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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