A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346174



Internal ID15193158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30661846..30661865hg38UCSC Ensembl
Innerchr19:30661842..30661869hg38UCSC Ensembl
Outerchr19:30661823..30661888hg38UCSC Ensembl
chr19:31152753..31152772hg19UCSC Ensembl
Innerchr19:31152749..31152776hg19UCSC Ensembl
Outerchr19:31152730..31152795hg19UCSC Ensembl
chr19:35844593..35844612hg18UCSC Ensembl
Innerchr19:35844616..35844589hg18UCSC Ensembl
Outerchr19:35844570..35844635hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9677858, essv9677847
SamplesNA11918, NA07347
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346174
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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