A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386647



Internal ID15233616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102876528..102876558hg38UCSC Ensembl
Innerchr7:102876540..102876544hg38UCSC Ensembl
Outerchr7:102876514..102876570hg38UCSC Ensembl
chr7:102516975..102517005hg19UCSC Ensembl
Innerchr7:102516987..102516991hg19UCSC Ensembl
Outerchr7:102516961..102517017hg19UCSC Ensembl
chr7:102304211..102304241hg18UCSC Ensembl
Innerchr7:102304223..102304227hg18UCSC Ensembl
Outerchr7:102304197..102304253hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38150
hg19150
hg18150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676628
SamplesNA19238
Known GenesFBXL13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386647
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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