A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417596



Internal ID14917868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:602052..602450hg38UCSC Ensembl
Innerchr19:602051..602451hg38UCSC Ensembl
Outerchr19:601052..603450hg38UCSC Ensembl
chr19:602052..602450hg19UCSC Ensembl
Innerchr19:602051..602451hg19UCSC Ensembl
Outerchr19:601052..603450hg19UCSC Ensembl
chr19:553052..553450hg18UCSC Ensembl
Innerchr19:553451..553051hg18UCSC Ensembl
Outerchr19:552052..554450hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691608
SamplesNA19239
Known GenesHCN2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417596
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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