A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329829



Internal ID15176815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30115705..30117003hg38UCSC Ensembl
Innerchr19:30116003..30116705hg38UCSC Ensembl
Outerchr19:30114705..30118003hg38UCSC Ensembl
chr19:30606612..30607910hg19UCSC Ensembl
Innerchr19:30606910..30607612hg19UCSC Ensembl
Outerchr19:30605612..30608910hg19UCSC Ensembl
chr19:35298452..35299750hg18UCSC Ensembl
Innerchr19:35299452..35298750hg18UCSC Ensembl
Outerchr19:35297452..35300750hg18UCSC 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 Variants
Supporting Variantsessv8691497
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329829
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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