A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415796



Internal ID15262755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46521660..46521679hg38UCSC Ensembl
Innerchr19:46521656..46521683hg38UCSC Ensembl
Outerchr19:46521637..46521702hg38UCSC Ensembl
chr19:47024917..47024936hg19UCSC Ensembl
Innerchr19:47024913..47024940hg19UCSC Ensembl
Outerchr19:47024894..47024959hg19UCSC Ensembl
chr19:51716757..51716776hg18UCSC Ensembl
Innerchr19:51716780..51716753hg18UCSC Ensembl
Outerchr19:51716734..51716799hg18UCSC Ensembl
Cytoband19q13.32
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 Variantsessv9678025
SamplesNA11918
Known GenesPPP5D1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415796
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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