A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303731



Internal ID15150679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58993881..58993882hg38UCSC Ensembl
Innerchr8:58993864..58993899hg38UCSC Ensembl
Outerchr8:58993863..58993900hg38UCSC Ensembl
chr8:59906440..59906441hg19UCSC Ensembl
Innerchr8:59906423..59906458hg19UCSC Ensembl
Outerchr8:59906422..59906459hg19UCSC Ensembl
chr8:60068994..60068995hg18UCSC Ensembl
Innerchr8:60069012..60068977hg18UCSC Ensembl
Outerchr8:60068976..60069013hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7781384, essv7798161, essv7796102, essv7807029, essv7821119, essv7776422, essv7826890, essv7776825, essv7830639, essv7815328, essv7786464, essv7782239, essv7822441, essv7800295, essv7813794, essv7784831, essv7810618, essv7786787, essv7775579, essv7836114, essv7778390, essv7808353, essv7773141, essv7824661, essv7791124, essv7795356, essv7803706
SamplesNA18502, NA19141, NA11995, NA18980, NA18959, NA18526, NA12750, NA07357, NA19005, NA18940, NA18550, NA18558, NA18547, NA18916, NA18571, NA18964, NA18572, NA18856, NA18555, NA18570, NA18593, NA18945, NA18576, NA11881, NA18564, NA12763, NA19093
Known GenesTOX
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303731
Frequency
Sample Size185
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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