A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808834



Internal ID13299261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1141715..1142308hg38UCSC Ensembl
Innerchr19:1141714..1142309hg38UCSC Ensembl
Outerchr19:1141605..1142428hg38UCSC Ensembl
chr19:1141714..1142307hg19UCSC Ensembl
Innerchr19:1141713..1142308hg19UCSC Ensembl
Outerchr19:1141604..1142427hg19UCSC Ensembl
chr19:1092714..1093307hg18UCSC Ensembl
Innerchr19:1093308..1092713hg18UCSC Ensembl
Outerchr19:1092604..1093427hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3387368
Supporting Variants
SamplesNA12878
Known GenesSBNO2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808834
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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