A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302897



Internal ID15149845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86520161..86520354hg38UCSC Ensembl
Innerchr8:86520257..86520257hg38UCSC Ensembl
Outerchr8:86520061..86520454hg38UCSC Ensembl
chr8:87532389..87532582hg19UCSC Ensembl
Innerchr8:87532485..87532485hg19UCSC Ensembl
Outerchr8:87532289..87532682hg19UCSC Ensembl
chr8:87601505..87601698hg18UCSC Ensembl
Innerchr8:87601601..87601601hg18UCSC Ensembl
Outerchr8:87601405..87601798hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38194
hg19194
hg18194
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7738992, essv7738290, essv7736383, essv7733499
SamplesNA11993, NA10847, NA12003, NA12154
Known GenesCPNE3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302897
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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