A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418896



Internal ID14919168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30434405..30435703hg38UCSC Ensembl
Innerchr19:30434703..30435405hg38UCSC Ensembl
Outerchr19:30433405..30436703hg38UCSC Ensembl
chr19:30925312..30926610hg19UCSC Ensembl
Innerchr19:30925610..30926312hg19UCSC Ensembl
Outerchr19:30924312..30927610hg19UCSC Ensembl
chr19:35617152..35618450hg18UCSC Ensembl
Innerchr19:35618152..35617450hg18UCSC Ensembl
Outerchr19:35616152..35619450hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2007e59
Supporting Variantsessv8691502
SamplesNA19239
Known GenesZNF536
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418896
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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