A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7763848



Internal ID14912069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179903316..179903317hg38UCSC Ensembl
Innerchr2:179903294..179903339hg38UCSC Ensembl
Outerchr2:179903293..179903340hg38UCSC Ensembl
chr2:180768043..180768044hg19UCSC Ensembl
Innerchr2:180768021..180768066hg19UCSC Ensembl
Outerchr2:180768020..180768067hg19UCSC Ensembl
chr2:180476288..180476289hg18UCSC Ensembl
Innerchr2:180476311..180476266hg18UCSC Ensembl
Outerchr2:180476265..180476312hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38610
hg19610
hg18610
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306436
Supporting Variants
SamplesNA19143
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7763848
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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