A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678217



Internal ID4722551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42487288..42488407hg19UCSC Ensembl
Outerchr19:42487251..42488457hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5843377
SamplesHG01366
Known GenesATP1A3
Method
Analysis
Platform
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678217
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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