A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3452034



Internal ID14952293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35296909..35299007hg38UCSC Ensembl
Innerchr19:35297909..35298007hg38UCSC Ensembl
Outerchr19:35295909..35300007hg38UCSC Ensembl
chr19:35787812..35789910hg19UCSC Ensembl
Innerchr19:35788812..35788910hg19UCSC Ensembl
Outerchr19:35786812..35790910hg19UCSC Ensembl
chr19:40479652..40481750hg18UCSC Ensembl
Innerchr19:40480652..40480750hg18UCSC Ensembl
Outerchr19:40478652..40482750hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2010e59
Supporting Variantsessv8691525
SamplesNA12878
Known GenesMAG
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3452034
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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