A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740912



Internal ID15084882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46346123..46346123hg38UCSC Ensembl
Innerchr19:46346122..46346124hg38UCSC Ensembl
Outerchr19:46346073..46346173hg38UCSC Ensembl
chr19:46849380..46849380hg19UCSC Ensembl
Innerchr19:46849379..46849381hg19UCSC Ensembl
Outerchr19:46849330..46849430hg19UCSC Ensembl
chr19:51541220..51541220hg18UCSC Ensembl
Innerchr19:51541221..51541219hg18UCSC Ensembl
Outerchr19:51541170..51541270hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38205
hg19205
hg18205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380093
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740912
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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