A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347730



Internal ID15194712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55143121..55143130hg38UCSC Ensembl
Innerchr6:55143112..55143137hg38UCSC Ensembl
Outerchr6:55143103..55143146hg38UCSC Ensembl
chr6:55007919..55007928hg19UCSC Ensembl
Innerchr6:55007910..55007935hg19UCSC Ensembl
Outerchr6:55007901..55007944hg19UCSC Ensembl
chr6:55115878..55115887hg18UCSC Ensembl
Innerchr6:55115894..55115869hg18UCSC Ensembl
Outerchr6:55115860..55115903hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676468, essv8676472, essv8676471, essv8676470, essv8676469
SamplesNA12891, NA19238, NA19239, NA12878, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347730
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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