A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3422688



Internal ID15269646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29646925..29646943hg38UCSC Ensembl
Innerchr19:29646927..29646941hg38UCSC Ensembl
Outerchr19:29646923..29646945hg38UCSC Ensembl
chr19:30137832..30137850hg19UCSC Ensembl
Innerchr19:30137834..30137848hg19UCSC Ensembl
Outerchr19:30137830..30137852hg19UCSC Ensembl
chr19:34829672..34829690hg18UCSC Ensembl
Innerchr19:34829674..34829688hg18UCSC Ensembl
Outerchr19:34829670..34829692hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866097, essv7866099
SamplesNA12005, NA18871
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3422688
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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