A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383001



Internal ID14883277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:86968899..86968918hg38UCSC Ensembl
Innerchr6:86968895..86968922hg38UCSC Ensembl
Outerchr6:86968876..86968941hg38UCSC Ensembl
chr6:87678617..87678636hg19UCSC Ensembl
Innerchr6:87678613..87678640hg19UCSC Ensembl
Outerchr6:87678594..87678659hg19UCSC Ensembl
chr6:87735336..87735355hg18UCSC Ensembl
Innerchr6:87735359..87735332hg18UCSC Ensembl
Outerchr6:87735313..87735378hg18UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9629347, essv9629336
SamplesNA12234, NA11881
Known GenesHTR1E
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383001
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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