A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9677657



Internal ID12995237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:15266145..15266164hg38UCSC Ensembl
Innerchr19:15266141..15266168hg38UCSC Ensembl
Outerchr19:15266122..15266187hg38UCSC Ensembl
chr19:15376956..15376975hg19UCSC Ensembl
Innerchr19:15376952..15376979hg19UCSC Ensembl
Outerchr19:15376933..15376998hg19UCSC Ensembl
chr19:15237956..15237975hg18UCSC Ensembl
Innerchr19:15237979..15237952hg18UCSC Ensembl
Outerchr19:15237933..15237998hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3382180
Supporting Variants
SamplesNA12043
Known GenesBRD4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9677657
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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