A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9624903



Internal ID13272606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146586849..146586868hg38UCSC Ensembl
Innerchr5:146586845..146586872hg38UCSC Ensembl
Outerchr5:146586826..146586891hg38UCSC Ensembl
chr5:145966412..145966431hg19UCSC Ensembl
Innerchr5:145966408..145966435hg19UCSC Ensembl
Outerchr5:145966389..145966454hg19UCSC Ensembl
chr5:145946605..145946624hg18UCSC Ensembl
Innerchr5:145946628..145946601hg18UCSC Ensembl
Outerchr5:145946582..145946647hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3367787
Supporting Variants
SamplesNA12874
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9624903
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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