A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9605746



Internal ID14912184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179903307..179903326hg38UCSC Ensembl
Innerchr2:179903303..179903330hg38UCSC Ensembl
Outerchr2:179903284..179903349hg38UCSC Ensembl
chr2:180768034..180768053hg19UCSC Ensembl
Innerchr2:180768030..180768057hg19UCSC Ensembl
Outerchr2:180768011..180768076hg19UCSC Ensembl
chr2:180476279..180476298hg18UCSC Ensembl
Innerchr2:180476302..180476275hg18UCSC Ensembl
Outerchr2:180476256..180476321hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364276
Supporting Variants
SamplesNA19143
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9605746
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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