A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394937



Internal ID15241901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127338319..127339717hg38UCSC Ensembl
Innerchr3:127338717..127339319hg38UCSC Ensembl
Outerchr3:127337319..127340717hg38UCSC Ensembl
chr3:127057162..127058560hg19UCSC Ensembl
Innerchr3:127057560..127058162hg19UCSC Ensembl
Outerchr3:127056162..127059560hg19UCSC Ensembl
chr3:128539852..128541250hg18UCSC Ensembl
Innerchr3:128540852..128540250hg18UCSC Ensembl
Outerchr3:128538852..128542250hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2795e59
Supporting Variantsessv8693829
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394937
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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