A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447330



Internal ID15294280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102932609..102932704hg38UCSC Ensembl
Innerchr7:102932654..102932659hg38UCSC Ensembl
Outerchr7:102932559..102932754hg38UCSC Ensembl
chr7:102573056..102573151hg19UCSC Ensembl
Innerchr7:102573101..102573106hg19UCSC Ensembl
Outerchr7:102573006..102573201hg19UCSC Ensembl
chr7:102360292..102360387hg18UCSC Ensembl
Innerchr7:102360342..102360337hg18UCSC Ensembl
Outerchr7:102360242..102360437hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3896
hg1996
hg1896
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741280
SamplesNA19240
Known GenesFBXL13, LRRC17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447330
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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