A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3419289



Internal ID15266247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46877309..46878907hg38UCSC Ensembl
Innerchr2:46877907..46878309hg38UCSC Ensembl
Outerchr2:46876309..46879907hg38UCSC Ensembl
chr2:47104448..47106046hg19UCSC Ensembl
Innerchr2:47105046..47105448hg19UCSC Ensembl
Outerchr2:47103448..47107046hg19UCSC Ensembl
chr2:46957952..46959550hg18UCSC Ensembl
Innerchr2:46958952..46958550hg18UCSC Ensembl
Outerchr2:46956952..46960550hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2126e59
Supporting Variantsessv8693653
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3419289
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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