A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309483



Internal ID14809747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141313774..141313775hg38UCSC Ensembl
Innerchr7:141313757..141313792hg38UCSC Ensembl
Outerchr7:141313756..141313793hg38UCSC Ensembl
chr7:141013574..141013575hg19UCSC Ensembl
Innerchr7:141013557..141013592hg19UCSC Ensembl
Outerchr7:141013556..141013593hg19UCSC Ensembl
chr7:140660043..140660044hg18UCSC Ensembl
Innerchr7:140660061..140660026hg18UCSC Ensembl
Outerchr7:140660025..140660062hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843243, essv7841794
SamplesNA19239, NA19240
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309483
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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