A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426376



Internal ID15273333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9519408..9519427hg38UCSC Ensembl
Innerchr19:9519410..9519425hg38UCSC Ensembl
Outerchr19:9519406..9519429hg38UCSC Ensembl
chr19:9630084..9630103hg19UCSC Ensembl
Innerchr19:9630086..9630101hg19UCSC Ensembl
Outerchr19:9630082..9630105hg19UCSC Ensembl
chr19:9491084..9491103hg18UCSC Ensembl
Innerchr19:9491086..9491101hg18UCSC Ensembl
Outerchr19:9491082..9491105hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866069
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426376
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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