A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9677847



Internal ID13192028
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 StatusS
Merged Variantsesv3346174
Supporting Variants
SamplesNA11918
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9677847
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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