A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447079



Internal ID15294029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:31438237..31438256hg38UCSC Ensembl
Innerchr19:31438233..31438260hg38UCSC Ensembl
Outerchr19:31438214..31438279hg38UCSC Ensembl
chr19:31929143..31929162hg19UCSC Ensembl
Innerchr19:31929139..31929166hg19UCSC Ensembl
Outerchr19:31929120..31929185hg19UCSC Ensembl
chr19:36620983..36621002hg18UCSC Ensembl
Innerchr19:36621006..36620979hg18UCSC Ensembl
Outerchr19:36620960..36621025hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9677925
SamplesNA12249
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447079
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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